ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.9172G>A (p.Gly3058Ser)

gnomAD frequency: 0.72620  dbSNP: rs970547
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245895 SCV000310294 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001511463 SCV001718711 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001540056 SCV001757893 benign not provided 2018-07-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16741161)
Genome-Nilou Lab RCV001582861 SCV001821736 benign Ullrich congenital muscular dystrophy 2 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001582862 SCV001821737 benign Bethlem myopathy 2 2021-07-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000245895 SCV001807679 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000245895 SCV001919443 benign not specified no assertion criteria provided clinical testing

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