ClinVar Miner

Submissions for variant NM_014727.2(KMT2B):c.1633C>T (p.Arg545Ter) (rs1057519279)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,Klinikum rechts der Isar RCV000415516 SCV000680275 pathogenic Dystonia 28, childhood-onset 2017-12-09 criteria provided, single submitter clinical testing
OMIM RCV000415516 SCV000493957 pathogenic Dystonia 28, childhood-onset 2017-01-12 no assertion criteria provided literature only
SIB Swiss Institute of Bioinformatics RCV000415516 SCV000787441 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. PM6 => Assumed de novo, but without confirmation of paternity and maternity (PMID:27839873). PVS1-Strong => PVS1 downgraded in strength to Strong (PMID:27839873).

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