ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.5871T>A (p.Ala1957=)

gnomAD frequency: 0.87913  dbSNP: rs594012
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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 RCV000245710 SCV000310277 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001522454 SCV001732003 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001582858 SCV001821740 benign Ullrich congenital muscular dystrophy 2 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001582859 SCV001821741 benign Bethlem myopathy 2 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001689845 SCV001910054 benign not provided 2018-07-06 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000245710 SCV001807133 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000245710 SCV001925899 benign not specified no assertion criteria provided clinical testing

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