ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.*1275C>G (rs182177140)

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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 RCV000323504 SCV000362674 likely benign Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000382929 SCV000362675 likely benign Cerebrooculofacioskeletal Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000288461 SCV000362676 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing

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