ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.*1981dup

gnomAD frequency: 0.00515  dbSNP: rs557832376
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000396268 SCV000362641 likely benign COFS syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000301745 SCV000362642 likely benign Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000358701 SCV000362643 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing

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