ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.2599-26A>G (rs4253196)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Miraca Genetics Laboratories, RCV000170380 SCV000807605 pathogenic Cockayne syndrome B 2017-09-01 criteria provided, single submitter clinical testing This mutation has been previously reported as disease-causing and was found once in our laboratory in trans with another pathogenic mutation in a patient with suspected diagnosis of Cockayne syndrome. Heterozygotes are expected to be asymptomatic carriers.
Claritas Genomics RCV000170380 SCV000222796 pathogenic Cockayne syndrome B 2012-04-17 criteria provided, single submitter clinical testing
Counsyl RCV000666576 SCV000790886 uncertain significance DE SANCTIS-CACCHIONE SYNDROME; Cerebro-oculo-facio-skeletal syndrome; Cockayne syndrome B 2017-04-14 criteria provided, single submitter clinical testing

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