ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val) (rs141641266)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224864 SCV000281107 likely benign not provided 2016-04-19 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000260007 SCV000343585 benign not specified 2016-07-05 criteria provided, single submitter clinical testing
Invitae RCV000224864 SCV000631411 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
GeneDx RCV000260007 SCV000730052 likely benign not specified 2017-01-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Counsyl RCV000671913 SCV000796947 uncertain significance Niemann-Pick disease, type A 2018-01-11 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000224864 SCV000801067 benign not provided 2017-06-14 no assertion criteria provided clinical testing

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