ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.1892-19_1892-18dup

dbSNP: rs11347601
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001522840 SCV001732456 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-19 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001729939 SCV001977716 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001729939 SCV001980516 benign not specified no assertion criteria provided clinical testing

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