ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.1007G>A (p.Arg336Gln)

gnomAD frequency: 0.00001  dbSNP: rs745667305
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000354532 SCV000333637 uncertain significance not provided 2017-03-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001224663 SCV001396877 likely benign Bethlem myopathy 1A 2023-10-30 criteria provided, single submitter clinical testing

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