ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.1337G>A (p.Gly446Asp) (rs4253047)

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Total submissions: 6
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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 RCV000224117 SCV000281372 likely benign not provided 2015-08-19 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
PreventionGenetics,PreventionGenetics RCV000249641 SCV000302366 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000350749 SCV000362932 likely benign Cerebrooculofacioskeletal Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000403688 SCV000362933 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000312969 SCV000362934 likely benign Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000224117 SCV001012107 benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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