ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.2349+16G>C

gnomAD frequency: 0.00405  dbSNP: rs112603291
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000444602 SCV000533211 likely benign not specified 2016-10-19 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.
Athena Diagnostics RCV000710778 SCV000841082 benign not provided 2018-08-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000710778 SCV001471241 benign not provided 2020-10-18 criteria provided, single submitter clinical testing
Invitae RCV002059989 SCV002475411 benign Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2024-01-31 criteria provided, single submitter clinical testing

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