ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.1466G>A (p.Arg489Gln) (rs61735828)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000241637 SCV000308258 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000305962 SCV000436689 likely benign Myosclerosis, autosomal recessive 2017-04-27 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.
Illumina Clinical Services Laboratory,Illumina RCV000360804 SCV000436690 likely benign Collagen VI-related myopathy 2017-04-27 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Athena Diagnostics Inc RCV000859406 SCV000613010 benign not provided 2019-05-03 criteria provided, single submitter clinical testing
Invitae RCV000526158 SCV000657108 benign Bethlem myopathy 1 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000241637 SCV000718412 benign not specified 2018-01-18 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.
NeuroMeGen,Hospital Clinico Santiago de Compostela RCV000526158 SCV000882605 likely pathogenic Bethlem myopathy 1 2018-10-08 criteria provided, single submitter clinical testing

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