ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.1340G>A (p.Arg447Lys)

dbSNP: rs2134019797
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS RCV001527427 SCV001738430 likely pathogenic Niemann-Pick disease, type B 2021-04-25 criteria provided, single submitter research
Baylor Genetics RCV003463044 SCV004205532 likely pathogenic Niemann-Pick disease, type A 2022-02-02 criteria provided, single submitter clinical testing

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