ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.8925A>G (p.Gly2975=)

gnomAD frequency: 0.00027  dbSNP: rs190820180
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652949 SCV000774821 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-20 criteria provided, single submitter clinical testing
GeneDx RCV001672919 SCV001884273 benign not provided 2019-04-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001672919 SCV004159751 benign not provided 2022-12-01 criteria provided, single submitter clinical testing COL12A1: BP4, BP7, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003905777 SCV004718668 benign COL12A1-related disorder 2019-03-20 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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