ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.*1279T>A

gnomAD frequency: 0.00048  dbSNP: rs189942338
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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 RCV000322399 SCV000362671 uncertain significance Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000376992 SCV000362672 uncertain significance COFS syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000287159 SCV000362673 uncertain significance Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing

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