ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.400C>T (p.Arg134Trp) (rs148095899)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000238687 SCV000296872 uncertain significance not specified 2015-10-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000329237 SCV000362983 likely benign Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000381521 SCV000362984 likely benign Cerebrooculofacioskeletal Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000289449 SCV000362985 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing

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