ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.249C>T (p.Phe83=)

gnomAD frequency: 0.00003  dbSNP: rs758434537
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001435913 SCV001638746 likely benign Bethlem myopathy 1A 2023-10-06 criteria provided, single submitter clinical testing
GeneDx RCV000932923 SCV001780043 uncertain significance not provided 2019-12-05 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Revvity Omics, Revvity RCV000932923 SCV003832904 uncertain significance not provided 2019-11-14 criteria provided, single submitter clinical testing

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