ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.81+15T>C

gnomAD frequency: 0.00006  dbSNP: rs758384218
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002073412 SCV002390007 likely benign Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2024-08-15 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001730201 SCV001977719 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001730201 SCV001978416 likely benign not provided no assertion criteria provided clinical testing

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