ClinVar Miner

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

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Total submissions: 7
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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 RCV001082792 SCV000631411 benign Niemann-Pick disease, type B; Niemann-Pick disease, type A 2019-12-31 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
Illumina Clinical Services Laboratory,Illumina RCV000671913 SCV001264351 likely benign Niemann-Pick disease, type A 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
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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