ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2046G>A (p.Leu682=)

dbSNP: rs1598954616
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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 RCV001503796 SCV001708654 likely benign Niemann-Pick disease, type C1 2023-07-25 criteria provided, single submitter clinical testing

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