ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.3150C>T (p.Gly1050=)

gnomAD frequency: 0.00004  dbSNP: rs376722458
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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 RCV000680494 SCV000807874 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811438 SCV001471560 likely benign not provided 2019-07-28 criteria provided, single submitter clinical testing
Invitae RCV001811438 SCV002325653 likely benign not provided 2023-10-26 criteria provided, single submitter clinical testing

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