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CE IVD-certified and HIPAA-compliant platform for variant discovery, annotation, and interpretation of NGS data for whole genomes, exomes, and gene panels, for individual samples, trios, families, and cohorts.
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The latest news from Saphetor SA, the creator of the VarSome Suite.
The latest updates across the whole VarSome Suite.
rs746753722 or CLN6 E227K or NM_017882.3(CLN6):c.679G>A or 15:68500735:A:T
TP53:R175L or NM_000546:R175L or NM_000546(TP53):p.Arg175Leu or TP53:c.524G>T or chr17-7675088-C-A or rs28934578
15-73027478-T-C, X 153418497 A G
chr2:131129929:CTGAAA:, chr13:38320595:GT:, 5:156479558:15:
chr17:37800000:L100000:DUP, chr11:21200000:L90000:DEL, chr7:117138367:117159446:DEL,
chr3:37039445:37059613:DUP, chr21:36160098:36171759:DEL, chr1:110230496:110235917:DUP,
chr21:36160098:36171759:DEL, chr17:43098764:43110978:DEL, chr13:32317656:32331987:DUP,
BRCA1, EGFR, HGNC:1097,
You are in a BETA Environment and any data or results
should not be treated as clinically actionable! If you have any questions, feel free to
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