ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) (rs4253208)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224059 SCV000281421 likely benign not provided 2014-09-15 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Claritas Genomics RCV000170384 SCV000222801 uncertain significance not specified 2013-08-26 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000170384 SCV000863299 benign not specified 2018-09-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000345279 SCV000362800 likely benign Cerebrooculofacioskeletal Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000383439 SCV000362801 likely benign Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000291488 SCV000362802 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
OMIM RCV000001776 SCV000021932 uncertain significance Cockayne syndrome B 1998-01-01 no assertion criteria provided literature only

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