ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.6394A>T (p.Asn2132Tyr)

gnomAD frequency: 0.00002  dbSNP: rs750889657
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001056660 SCV001221113 likely benign Bethlem myopathy 1 2022-11-17 criteria provided, single submitter clinical testing
GeneDx RCV001772271 SCV001994421 uncertain significance not provided 2019-08-20 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV001772271 SCV003832894 uncertain significance not provided 2019-06-28 criteria provided, single submitter clinical testing

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