ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.*1112G>A (rs186262133)

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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 RCV000348193 SCV000362677 likely benign Cerebrooculofacioskeletal Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000403083 SCV000362678 likely benign Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293903 SCV000362679 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing

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