ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.1503+11C>T

gnomAD frequency: 0.00001  dbSNP: rs538640615
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000610641 SCV000725682 likely benign not specified 2017-12-08 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811103 SCV001471487 likely benign not provided 2020-06-08 criteria provided, single submitter clinical testing
Invitae RCV002064216 SCV002444456 likely benign Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2022-05-27 criteria provided, single submitter clinical testing

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