ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.952G>A (p.Val318Met)

dbSNP: rs875989837
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Metabolic Disorders, Peking University First Hospital RCV000211451 SCV000267614 pathogenic Niemann-Pick disease, type A 2015-05-20 no assertion criteria provided research
Seelig Lab, University of Washington RCV000767335 SCV000897907 not provided not provided no assertion provided in vitro

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