ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.3527-4A>T

dbSNP: rs888826541
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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 RCV001171865 SCV001334745 uncertain significance not provided 2020-03-01 criteria provided, single submitter clinical testing
Invitae RCV002068054 SCV002384742 likely benign Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2023-12-09 criteria provided, single submitter clinical testing

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