ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.241C>T (p.Arg81Ter)

gnomAD frequency: 0.00001  dbSNP: rs868423827
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410072 SCV000486147 likely pathogenic Niemann-Pick disease, type A 2016-04-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763264 SCV000893902 likely pathogenic Niemann-Pick disease, type B; Niemann-Pick disease, type A 2018-10-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV000410072 SCV001163657 pathogenic Niemann-Pick disease, type A criteria provided, single submitter clinical testing

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