ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.5968C>T (p.Arg1990Trp) (rs146546544)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000449495 SCV000537732 uncertain significance Congenital contracture 2015-04-10 criteria provided, single submitter clinical testing This homozygous variant in the COL6A3 gene was found in a fœtus with arthrogryposis. The mother and the father are consanguinous and are both heterozygous for this variant.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000301747 SCV000338837 likely benign not specified 2016-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000301747 SCV000725898 likely benign not specified 2017-12-26 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.
Illumina Clinical Services Laboratory,Illumina RCV000291553 SCV000428774 likely benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000538324 SCV000657361 benign Bethlem myopathy 1 2017-12-27 criteria provided, single submitter clinical testing

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