ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.363G>A (p.Val121=)

gnomAD frequency: 0.00001  dbSNP: rs559388395
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001417010 SCV001619203 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001417010 SCV002812484 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2021-10-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965778 SCV004785626 likely benign COL12A1-related disorder 2023-12-11 no assertion criteria provided 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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