ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1947+9_1947+10insA

dbSNP: rs1555634683
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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 RCV002206182 SCV002491874 likely benign Niemann-Pick disease, type C1 2024-02-08 criteria provided, single submitter clinical testing

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