ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.2234G>A (p.Arg745Gln)

gnomAD frequency: 0.00003  dbSNP: rs768280699
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001359136 SCV001554998 likely benign Bethlem myopathy 1A 2024-11-22 criteria provided, single submitter clinical testing
GeneDx RCV001779158 SCV002015377 uncertain significance not provided 2022-08-17 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001779158 SCV002047865 uncertain significance not provided 2021-09-03 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001779158 SCV003832427 likely benign not provided 2023-11-28 criteria provided, single submitter clinical testing

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