ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.2965G>A (p.Gly989Arg)

gnomAD frequency: 0.00262  dbSNP: rs139332405
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000559755 SCV000656143 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001551033 SCV001771454 likely benign not provided 2020-12-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001551033 SCV004159768 benign not provided 2024-01-01 criteria provided, single submitter clinical testing COL12A1: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003925722 SCV004740670 benign COL12A1-related disorder 2020-01-13 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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