ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.6040G>T (p.Asp2014Tyr)

gnomAD frequency: 0.00001  dbSNP: rs376548186
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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) RCV000290851 SCV000344822 uncertain significance not provided 2016-09-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001850464 SCV002117716 likely benign Bethlem myopathy 1A 2025-01-17 criteria provided, single submitter clinical testing

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