ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.6312C>T (p.Gly2104=)

gnomAD frequency: 0.00004  dbSNP: rs377074792
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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) RCV000314936 SCV000337669 uncertain significance not provided 2017-04-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001346967 SCV001541205 likely benign Bethlem myopathy 1A 2024-09-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000314936 SCV004147324 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing COL6A3: BP4, BP7

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