ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1371T>C (p.Tyr457=)

gnomAD frequency: 0.00001  dbSNP: rs779065920
Minimum review status: Collection method:
Minimum conflict level:
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 RCV000981963 SCV001129972 likely benign Niemann-Pick disease, type C1 2024-04-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV000981963 SCV001463709 uncertain significance Niemann-Pick disease, type C1 2020-02-13 no assertion criteria provided clinical testing

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