ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.2697G>A (p.Thr899=)

gnomAD frequency: 0.00015  dbSNP: rs761802751
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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 RCV000303153 SCV000362848 uncertain significance COFS syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000358062 SCV000362849 uncertain significance Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000394139 SCV000362850 uncertain significance Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000930085 SCV001075727 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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