ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.4391G>C (p.Cys1464Ser)

gnomAD frequency: 0.00001  dbSNP: rs759125039
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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 RCV000322352 SCV000362734 uncertain significance Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000379707 SCV000362735 uncertain significance Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000285276 SCV000362736 uncertain significance COFS syndrome 2016-06-14 criteria provided, single submitter clinical testing

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