ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.2173G>A (p.Ala725Thr)

dbSNP: rs984509796
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001217775 SCV001389627 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-05 criteria provided, single submitter clinical testing
GeneDx RCV001751409 SCV002005050 uncertain significance not provided 2019-02-13 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 that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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