ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.*61G>A

gnomAD frequency: 0.05523  dbSNP: rs1043801
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000400817 SCV000436848 likely benign Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000290967 SCV000436849 likely benign Collagen 6-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000398996 SCV000483967 likely benign Glutamate formiminotransferase deficiency 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001712129 SCV001943449 benign not provided 2018-06-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001712129 SCV005207715 likely benign not provided criteria provided, single submitter not provided

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