ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.6132G>T (p.Gly2044=)

gnomAD frequency: 0.00003  dbSNP: rs762950440
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725768 SCV000339283 uncertain significance not provided 2016-02-05 criteria provided, single submitter clinical testing
GeneDx RCV000295669 SCV000727364 likely benign not specified 2018-02-12 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001080018 SCV001018143 likely benign Bethlem myopathy 1A 2024-07-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004547707 SCV004712878 likely benign COL6A3-related disorder 2022-08-29 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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