ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.2359C>T (p.Arg787Trp) (rs776830520)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000260482 SCV000450056 uncertain significance Ellis-van Creveld Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714815 SCV000845551 uncertain significance Chondroectodermal dysplasia 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714816 SCV000845552 uncertain significance Curry-Hall syndrome 2018-08-07 criteria provided, single submitter clinical testing

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