ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.4211G>A (p.Arg1404His) (rs755854972)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000353273 SCV000362746 uncertain significance Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000397973 SCV000362747 uncertain significance Cerebrooculofacioskeletal Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299693 SCV000362748 uncertain significance Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing

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