ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.2343+11C>T

dbSNP: rs369846335
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002107943 SCV002392687 likely benign Osteogenesis imperfecta type I 2022-06-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004700622 SCV005203022 likely benign not specified 2024-07-22 criteria provided, single submitter clinical testing

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