ClinVar Miner

Submissions for variant NM_000082.3(ERCC8):c.1042-1G>A (rs897535441)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674160 SCV000799447 likely pathogenic Cockayne syndrome type A 2018-04-18 criteria provided, single submitter clinical testing
Children's Hospital of Soochow University,Soochow University RCV000674160 SCV000808973 pathogenic Cockayne syndrome type A 2018-09-01 no assertion criteria provided clinical testing

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