ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.-78G>T

gnomAD frequency: 0.04162  dbSNP: rs4253005
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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 RCV000372233 SCV000363007 benign Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000279963 SCV000363008 benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000351398 SCV000363009 benign COFS syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001597048 SCV001830270 benign not provided 2021-05-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001597048 SCV005319405 benign not provided criteria provided, single submitter not provided

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