ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.3942G>A (p.Trp1314Ter)

dbSNP: rs1564725764
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Cologne University RCV000735200 SCV000854640 pathogenic Cockayne syndrome type 2 no assertion criteria provided clinical testing

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