ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.969+13A>G

gnomAD frequency: 0.00004  dbSNP: rs752733598
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659388 SCV000781199 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000827348 SCV000968988 likely benign not provided 2018-05-18 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 RCV000827348 SCV002451027 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing

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