ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.1270G>A (p.Gly424Ser)

gnomAD frequency: 0.00004  dbSNP: rs750427423
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001207893 SCV001379261 likely benign Osteogenesis imperfecta type I 2023-07-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001310369 SCV001500137 uncertain significance not provided 2020-10-01 criteria provided, single submitter clinical testing

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