ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.2335G>T (p.Glu779Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004797162 SCV005418228 pathogenic Ellis-van Creveld syndrome criteria provided, single submitter clinical testing PM2_Supporting+PVS1+PM3_Strong

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