ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1782C>T (p.Tyr594=)

dbSNP: rs2145406178
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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 RCV002120646 SCV002435379 likely benign Niemann-Pick disease, type C1 2024-09-16 criteria provided, single submitter clinical testing

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