ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.*232dup

dbSNP: rs74561842
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000281786 SCV000362716 uncertain significance Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000336782 SCV000362717 uncertain significance COFS syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000377342 SCV000362718 uncertain significance Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004692906 SCV005190731 uncertain significance not provided criteria provided, single submitter not provided

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