ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.3141G>A (p.Trp1047Ter)

dbSNP: rs886037764
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000257943 SCV000795334 likely pathogenic Ellis-van Creveld syndrome 2017-11-03 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001781609 SCV002022228 pathogenic not provided 2021-01-18 criteria provided, single submitter clinical testing
Centre for Genomic and Experimental Medicine, University of Edinburgh RCV000257943 SCV000258453 pathogenic Ellis-van Creveld syndrome no assertion criteria provided research

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