ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.2751G>A (p.Val917=)

dbSNP: rs111341650
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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) RCV000282777 SCV000338476 uncertain significance not provided 2016-01-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001859619 SCV002265785 likely benign Bethlem myopathy 1A 2024-10-24 criteria provided, single submitter clinical testing

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