ClinVar Miner

Submissions for variant NM_000089.3(COL1A2):c.2082C>A (p.Gly694=) (rs193229878)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029596 SCV000052248 likely benign Osteogenesis imperfecta 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
Invitae RCV000526027 SCV000627305 likely benign Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I 2017-03-30 criteria provided, single submitter clinical testing

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