ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.2351A>C (p.Gln784Pro)

gnomAD frequency: 0.00001  dbSNP: rs754795342
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000768396 SCV000899144 uncertain significance Vici syndrome 2019-01-17 criteria provided, single submitter curation This variant is interpreted as a Uncertain significance for Vici syndrome, autosomal recessive. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium.

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