ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.928-10T>A

gnomAD frequency: 0.00002  dbSNP: rs747608945
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000919963 SCV001065320 likely benign Bethlem myopathy 1 2023-11-27 criteria provided, single submitter clinical testing
GeneDx RCV001772168 SCV001992271 uncertain significance not provided 2019-04-19 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, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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