ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.6062G>A (p.Arg2021Gln)

gnomAD frequency: 0.00067  dbSNP: rs34438461
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000524755 SCV000656178 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-24 criteria provided, single submitter clinical testing
GeneDx RCV001556792 SCV001778432 likely benign not provided 2021-03-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905469 SCV004726561 benign COL12A1-related disorder 2019-08-08 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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