ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.2982T>C (p.Arg994=)

dbSNP: rs1598288661
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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 RCV001471149 SCV001675251 likely benign Osteogenesis imperfecta type I 2018-10-21 criteria provided, single submitter clinical testing

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