ClinVar Miner

Submissions for variant NM_005518.3(HMGCS2):c.1124C>G (p.Ser375Cys) (rs151328418)

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Total submissions: 3
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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 RCV000418713 SCV000511511 likely benign not provided 2017-01-26 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000607592 SCV000728560 likely benign not specified 2017-05-23 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.
Illumina Clinical Services Laboratory,Illumina RCV000364022 SCV000347906 uncertain significance mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 2016-06-14 criteria provided, single submitter clinical testing

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