ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.7355-9A>G

gnomAD frequency: 0.00103  dbSNP: rs145346828
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000876876 SCV001019508 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-08 criteria provided, single submitter clinical testing
GeneDx RCV001597231 SCV001830880 likely benign not provided 2021-01-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908336 SCV004719394 benign COL12A1-related disorder 2019-08-03 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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