ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.3544G>T (p.Glu1182Ter)

dbSNP: rs2145712492
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences RCV002223140 SCV002499459 pathogenic Vici syndrome criteria provided, single submitter clinical testing

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