ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.7698-19_7698-15del

dbSNP: rs141102808
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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 RCV000243155 SCV000310282 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001582860 SCV001812770 likely benign not provided 2019-08-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058159 SCV002410588 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-02-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000243155 SCV001808980 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001582860 SCV001917069 likely benign not provided no assertion criteria provided clinical testing

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