ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.379G>A (p.Val127Ile) (rs116275562)

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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 RCV000340746 SCV000362989 likely benign Cerebrooculofacioskeletal Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391442 SCV000362990 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278426 SCV000362991 likely benign Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing

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