ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.5213T>C (p.Ile1738Thr)

gnomAD frequency: 0.29412  dbSNP: rs240736
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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 RCV000248545 SCV000310272 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001522625 SCV001732201 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001582855 SCV001821745 benign Ullrich congenital muscular dystrophy 2 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001582856 SCV001821746 benign Bethlem myopathy 2 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001610645 SCV001839202 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000248545 SCV001809667 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000248545 SCV001923629 benign not specified no assertion criteria provided clinical testing

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