ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.81+11del

dbSNP: rs193922174
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Total submissions: 4
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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 RCV000029612 SCV000052264 uncertain Osteogenesis imperfecta 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.
GeneDx RCV000613834 SCV000725883 likely benign not specified 2017-12-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV002513245 SCV003275508 benign Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2023-08-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736544 SCV004563388 likely benign not provided 2023-03-23 criteria provided, single submitter clinical testing

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