ClinVar Miner

Submissions for variant NM_006651.4(CPLX1):c.322G>T (p.Glu108Ter) (rs1060499735)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000454222 SCV000537913 likely pathogenic Abnormality of brain morphology criteria provided, single submitter research Homozygous stop gain
SIB Swiss Institute of Bioinformatics RCV000627075 SCV000883258 likely pathogenic EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63 2018-10-15 criteria provided, single submitter curation This variant is interpreted as Likely Pathogenic, for Epileptic encephalopathy, early infantile, 63, 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. PVS1-Strong => PVS1 downgraded in strength to Strong (https://www.ncbi.nlm.nih.gov/pubmed/26539891).
OMIM RCV000627075 SCV000747885 pathogenic EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63 2018-05-15 no assertion criteria provided literature only

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