ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.1681T>G (p.Tyr561Asp) (rs1564430115)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000714664 SCV000845384 uncertain significance Cerebro-oculo-facio-skeletal syndrome 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000714665 SCV000845385 uncertain significance Cockayne syndrome B 2018-08-07 criteria provided, single submitter clinical testing

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