ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.*2337A>C

dbSNP: rs557944846
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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 RCV000384015 SCV000362629 likely benign COFS syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000273287 SCV000362630 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000325532 SCV000362631 likely benign Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing

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