ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.2307C>T (p.Asp769=)

gnomAD frequency: 0.00008  dbSNP: rs145023922
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727249 SCV000706951 uncertain significance not provided 2017-03-31 criteria provided, single submitter clinical testing
GeneDx RCV000727249 SCV000727706 likely benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000727249 SCV001643993 likely benign not provided 2023-08-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004689805 SCV005184661 benign not specified 2024-05-30 criteria provided, single submitter clinical testing

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