ClinVar Miner

Submissions for variant NC_000018.9:g.21124907_21124908insCCTC

dbSNP: rs55809701
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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 RCV002164849 SCV002333527 likely benign Niemann-Pick disease, type C1 2025-01-11 criteria provided, single submitter clinical testing

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