ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1974C>T (p.Ile658=)

gnomAD frequency: 0.00001  dbSNP: rs760323508
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001476059 SCV001680262 likely benign Niemann-Pick disease, type C1 2023-09-10 criteria provided, single submitter clinical testing

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