ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.1598C>A (p.Pro533Gln)

dbSNP: rs199915216
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS RCV001527432 SCV001738437 pathogenic Niemann-Pick disease, type A 2021-04-25 criteria provided, single submitter research
Baylor Genetics RCV001527432 SCV004203211 likely pathogenic Niemann-Pick disease, type A 2024-03-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005050388 SCV005684536 likely pathogenic Niemann-Pick disease, type B; Niemann-Pick disease, type A 2024-05-02 criteria provided, single submitter clinical testing

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