ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.2194-10C>T

gnomAD frequency: 0.00003  dbSNP: rs779541449
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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 RCV000680496 SCV000807877 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001490732 SCV001695303 likely benign not provided 2023-10-02 criteria provided, single submitter clinical testing
GeneDx RCV001490732 SCV001778847 likely benign not provided 2020-10-06 criteria provided, single submitter clinical testing

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