ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.2077C>T (p.Pro693Ser) (rs369804770)

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Total submissions: 3
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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 RCV000443075 SCV000511004 uncertain significance not provided 2016-10-13 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV000311994 SCV000469942 likely benign Cutis laxa, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000369053 SCV000469943 likely benign Supravalvar aortic stenosis 2016-06-14 criteria provided, single submitter clinical testing

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