ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.1340+7C>T

gnomAD frequency: 0.00144  dbSNP: rs116480929
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178117 SCV000230118 likely benign not specified 2017-03-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000542394 SCV000631410 benign Niemann-Pick disease, type B; Niemann-Pick disease, type A 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835706 SCV002092270 likely benign Niemann-Pick disease, type A 2017-05-05 no assertion criteria provided clinical testing

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