ClinVar Miner

Submissions for variant NM_001848.2(COL6A1):c.349G>A (p.Val117Met) (rs150686304)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000116792 SCV000150799 uncertain significance not provided 2014-02-25 criteria provided, single submitter clinical testing
GeneDx RCV000149921 SCV000196772 likely benign not specified 2017-09-29 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.
PreventionGenetics,PreventionGenetics RCV000149921 SCV000308219 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000149921 SCV000335451 likely benign not specified 2015-09-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303402 SCV000436483 likely benign Collagen VI-related myopathy 2017-04-28 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.
Fulgent Genetics,Fulgent Genetics RCV000515158 SCV000611467 uncertain significance Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1 2017-05-23 criteria provided, single submitter clinical testing
Invitae RCV001080605 SCV000657063 likely benign Bethlem myopathy 1 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000116792 SCV001153574 uncertain significance not provided 2017-11-01 criteria provided, single submitter clinical testing

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