ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.2782-19T>G

gnomAD frequency: 0.00011  dbSNP: rs193922164
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029599 SCV000052251 uncertain Osteogenesis imperfecta 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.
Invitae RCV002513243 SCV003002276 likely benign Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2023-09-05 criteria provided, single submitter clinical testing

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