ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.2219G>A (p.Arg740His)

gnomAD frequency: 0.00003  dbSNP: rs529827991
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000406679 SCV000336523 uncertain significance not provided 2015-10-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000793471 SCV000932823 likely benign Bethlem myopathy 1A 2024-07-21 criteria provided, single submitter clinical testing

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