ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.956-4C>G

dbSNP: rs2145458780
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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 RCV002186317 SCV002486450 likely benign Niemann-Pick disease, type C1 2023-11-08 criteria provided, single submitter clinical testing

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