ClinVar Miner

Submissions for variant NM_003850.2(SUCLA2):c.110T>G (p.Leu37Trp) (rs62636645)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000224908 SCV000844829 benign not provided 2017-11-20 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224908 SCV000281069 benign not provided 2015-11-23 criteria provided, single submitter clinical testing
GeneDx RCV000128330 SCV000171923 benign not specified 2011-10-17 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 RCV000271676 SCV000384522 likely benign Mitochondrial DNA depletion syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000646788 SCV000768573 benign Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 2017-11-09 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000224908 SCV000802689 benign not provided 2017-09-18 no assertion criteria provided clinical testing

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