ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.595-20C>T

gnomAD frequency: 0.00242  dbSNP: rs192022673
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721365 SCV000531138 likely benign not provided 2018-05-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001721365 SCV001471774 benign not provided 2022-04-28 criteria provided, single submitter clinical testing
Invitae RCV002059890 SCV002445252 benign Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2024-01-25 criteria provided, single submitter clinical testing

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