ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.3453A>G (p.Leu1151=) (rs771604820)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671962 SCV000797009 likely benign DE SANCTIS-CACCHIONE SYNDROME; Cerebro-oculo-facio-skeletal syndrome; Cockayne syndrome B 2018-01-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000314768 SCV000362791 uncertain significance Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000353181 SCV000362792 uncertain significance Cerebrooculofacioskeletal Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000260758 SCV000362793 uncertain significance Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing

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