ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter) (rs121917902)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Claritas Genomics RCV000001772 SCV000222780 pathogenic Cockayne syndrome B 2013-07-29 criteria provided, single submitter clinical testing
Counsyl RCV000669858 SCV000794650 pathogenic DE SANCTIS-CACCHIONE SYNDROME; Cerebro-oculo-facio-skeletal syndrome; Cockayne syndrome B 2017-10-12 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763212 SCV000893837 pathogenic DE SANCTIS-CACCHIONE SYNDROME; Cerebro-oculo-facio-skeletal syndrome; Cockayne syndrome B; Lung cancer; UV-sensitive syndrome; Age-related macular degeneration 5; Premature ovarian failure 11 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000001772 SCV000021928 pathogenic Cockayne syndrome B 1999-05-01 no assertion criteria provided literature only

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