ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.1152G>A (p.Met384Ile)

dbSNP: rs120074121
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596113 SCV000700332 pathogenic not provided 2017-03-03 criteria provided, single submitter clinical testing
OMIM RCV000003120 SCV000023278 pathogenic Niemann-Pick disease, type A 2010-03-11 no assertion criteria provided literature only

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