ClinVar Miner

Submissions for variant NM_014727.3(KMT2B):c.1690C>T (p.Arg564Ter)

dbSNP: rs1057519283
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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 RCV000415564 SCV000787443 likely pathogenic Dystonia 28, childhood-onset 2018-04-16 criteria provided, single submitter curation This variant is interpreted as a Likely Pathogenic, for Dystonia 28, childhood-onset, Autosomal Dominant inheritance. 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. PM6 => Assumed de novo, but without confirmation of paternity and maternity (PMID:27992417).
Institute of Human Genetics, University of Leipzig Medical Center RCV000415564 SCV001443035 pathogenic Dystonia 28, childhood-onset 2020-03-01 criteria provided, single submitter clinical testing Review of the variants reported in Reuter et al., 2017, PMID: 28097321: PVS1,PS2,PM2
OMIM RCV000415564 SCV000493961 pathogenic Dystonia 28, childhood-onset 2017-02-01 no assertion criteria provided literature only

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