ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.2397T>C (p.Asp799=)

gnomAD frequency: 0.00001  dbSNP: rs754203636
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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) RCV000593353 SCV000703327 uncertain significance not provided 2016-11-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000593353 SCV004149945 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing COL6A2: BP4, BP7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003488714 SCV004241920 likely benign not specified 2023-12-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005056257 SCV005702440 likely benign Bethlem myopathy 1A 2024-05-23 criteria provided, single submitter clinical testing

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