ClinVar Miner

Submissions for variant NM_017635.5(KMT5B):c.791G>C (p.Trp264Ser) (rs1555028104)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000515796 SCV000899119 uncertain significance Intellectual disability, autosomal dominant 51 2018-06-05 criteria provided, single submitter curation This variant is interpreted as a Uncertain significance for Mental retardation, autosomal dominant 51. 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. PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PM6 =>Assumed de novo, but without confirmation of paternity and maternity.
OMIM RCV000515796 SCV000611898 pathogenic Intellectual disability, autosomal dominant 51 2017-12-05 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001291377 SCV001479851 likely pathogenic Autism spectrum disorder no assertion criteria provided research

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