ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.5352G>A (p.Arg1784=)

gnomAD frequency: 0.00001  dbSNP: rs1372127467
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652931 SCV000774803 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-12-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003892490 SCV004715824 likely benign COL12A1-related condition 2023-05-05 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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