ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.956-7C>T

dbSNP: rs537484682
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001078687 SCV001086052 likely benign Niemann-Pick disease, type C1 2023-08-24 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675578 SCV000801269 likely benign not provided 2017-06-15 no assertion criteria provided clinical testing

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