ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.2358C>T (p.Pro786=)

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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 RCV003631463 SCV004383829 likely benign Osteogenesis imperfecta type I 2023-03-18 criteria provided, single submitter clinical testing

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