ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.10_11insTTGTGATGCT (p.Tyr4fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003474055 SCV004203242 likely pathogenic Niemann-Pick disease, type A 2024-01-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005051318 SCV005684488 likely pathogenic Niemann-Pick disease, type B; Niemann-Pick disease, type A 2024-01-24 criteria provided, single submitter clinical testing

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