ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.318+7A>G

dbSNP: rs747913628
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001397388 SCV001599135 likely benign Niemann-Pick disease, type B; Niemann-Pick disease, type A 2020-06-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279281 SCV001466364 uncertain significance Sphingomyelin/cholesterol lipidosis 2020-04-14 no assertion criteria provided clinical testing

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