ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2619G>A (p.Val873=)

gnomAD frequency: 0.00001  dbSNP: rs2058689890
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001995069 SCV002254553 likely benign Niemann-Pick disease, type C1 2022-12-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004598168 SCV005093651 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing NPC1: BP4, BP7

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