ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.1091+20A>T

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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 RCV003781292 SCV004573229 likely benign Niemann-Pick disease, type B; Niemann-Pick disease, type A 2024-02-13 criteria provided, single submitter clinical testing

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