ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.814G>A (p.Gly272Ser)

dbSNP: rs398123640
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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) RCV000079827 SCV000111710 uncertain significance not provided 2013-07-26 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415255 SCV000492880 likely pathogenic Motor delay; Limb-girdle muscle weakness; EMG abnormality 2014-04-01 criteria provided, single submitter clinical testing

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