ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2515-10G>T

gnomAD frequency: 0.00001  dbSNP: rs1410751528
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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 RCV002106127 SCV002434870 likely benign Niemann-Pick disease, type C1 2023-12-30 criteria provided, single submitter clinical testing

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