ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.6479A>T (p.Glu2160Val)

gnomAD frequency: 0.03556  dbSNP: rs35523808
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247818 SCV000310280 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000546765 SCV000656185 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001538568 SCV001756239 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000247818 SCV001807932 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000247818 SCV001918316 benign not specified no assertion criteria provided clinical testing

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