ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.4335A>G (p.Lys1445=)

gnomAD frequency: 0.00347  dbSNP: rs113549828
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000874013 SCV001016127 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001537153 SCV001753999 likely benign not provided 2020-12-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003938336 SCV004748787 benign COL12A1-related disorder 2019-06-04 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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