ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.6752G>A (p.Arg2251His)

gnomAD frequency: 0.00033  dbSNP: rs151324784
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001079350 SCV000774824 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000652952 SCV001154820 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing
GeneDx RCV000652952 SCV001825757 likely benign not provided 2021-08-12 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000652952 SCV004237817 likely benign not provided 2023-10-31 criteria provided, single submitter clinical testing

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