ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1521C>T (p.Ala507=)

dbSNP: rs780100866
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732498 SCV000860463 uncertain significance not provided 2018-03-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001452547 SCV001656215 likely benign Niemann-Pick disease, type C1 2023-11-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000732498 SCV004140864 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing NPC1: BP4, BP7

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