ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.695A>G (p.Asp232Gly)

gnomAD frequency: 0.00004  dbSNP: rs201956601
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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 RCV001487935 SCV001692434 likely benign Niemann-Pick disease, type C1 2024-12-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001487935 SCV003816046 uncertain significance Niemann-Pick disease, type C1 2021-09-28 criteria provided, single submitter clinical testing

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