ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.6281C>A (p.Thr2094Asn)

gnomAD frequency: 0.00034  dbSNP: rs201567848
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003891925 SCV000310279 benign COL12A1-related disorder 2020-09-03 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).
Invitae RCV000652936 SCV000774808 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-31 criteria provided, single submitter clinical testing

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