ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.8376C>T (p.Asp2792=)

gnomAD frequency: 0.00001  dbSNP: rs772967228
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000317467 SCV000337612 uncertain significance not provided 2015-11-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003517169 SCV004248273 likely benign Bethlem myopathy 1A 2023-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000317467 SCV005042444 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing COL6A3: BP4, BP7

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