ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.7854G>C (p.Thr2618=)

gnomAD frequency: 0.00010  dbSNP: rs190984968
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652942 SCV000774814 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-06 criteria provided, single submitter clinical testing
GeneDx RCV001577829 SCV001805294 likely benign not provided 2020-07-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001577829 SCV004159755 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing COL12A1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003953203 SCV004774668 likely benign COL12A1-related condition 2023-12-21 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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