ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.1815C>T (p.Ser605=)

dbSNP: rs2134024538
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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 RCV001414254 SCV001616384 likely benign Niemann-Pick disease, type B; Niemann-Pick disease, type A 2020-03-25 criteria provided, single submitter clinical testing

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