ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.785G>A (p.Gly262Asp)

dbSNP: rs1791858238
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001171992 SCV001334917 likely pathogenic not provided 2020-02-01 criteria provided, single submitter clinical testing
Invitae RCV001873587 SCV002305826 likely pathogenic Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2021-08-27 criteria provided, single submitter clinical testing

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