ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.2622T>C (p.Gly874=)

gnomAD frequency: 0.00001  dbSNP: rs769128071
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 3
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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 RCV006688820 SCV007584933 likely benign not specified 2026-03-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002557954 SCV003491666 likely benign Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2022-11-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001091394 SCV001247414 likely benign not provided 2019-11-01 criteria provided, single submitter clinical testing

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