ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1269C>T (p.Val423=) (rs61734583)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176049 SCV000227642 benign not specified 2015-04-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000315621 SCV000469908 likely benign Cutis laxa, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000388850 SCV000469909 likely benign Supravalvar aortic stenosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000388850 SCV000748720 benign Supravalvar aortic stenosis 2017-12-06 criteria provided, single submitter clinical testing

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