ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.670C>T (p.Leu224Phe) (rs150935953)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Claritas Genomics RCV000170393 SCV000222815 uncertain significance not specified 2012-12-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726037 SCV000341373 uncertain significance not provided 2016-04-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000287342 SCV000362971 likely benign Cerebrooculofacioskeletal Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000340086 SCV000362972 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000404438 SCV000362973 likely benign Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing

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