ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.1929+12T>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002624961 SCV003518393 likely benign Osteogenesis imperfecta type I 2022-06-23 criteria provided, single submitter clinical testing

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