ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.*158C>T

gnomAD frequency: 0.06989  dbSNP: rs11554666
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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 RCV000373138 SCV000436868 benign Collagen 6-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000278605 SCV000436869 benign Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000397434 SCV000483970 benign Glutamate formiminotransferase deficiency 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001711967 SCV001944956 benign not provided 2018-06-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001711967 SCV005279524 benign not provided criteria provided, single submitter not provided

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