ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.5261A>G (p.Lys1754Arg) (rs77632596)

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Total submissions: 8
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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 RCV000514217 SCV000611050 likely benign not provided 2017-03-10 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000080950 SCV000257956 benign not specified 2015-02-19 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080950 SCV000112857 benign not specified 2012-11-05 criteria provided, single submitter clinical testing
GeneDx RCV000080950 SCV000196796 benign not specified 2017-08-21 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 RCV000324898 SCV000428786 likely benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000527061 SCV000657340 benign Bethlem myopathy 1 2017-12-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000080950 SCV000538723 likely benign not specified 2016-06-02 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 0.77% in ExAC, 1.1% in European population with 4 homozygotes. Emory, GeneDx, and CHOP report as B/LB
PreventionGenetics RCV000080950 SCV000310188 benign not specified criteria provided, single submitter clinical testing

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