ClinVar Miner

Submissions for variant NM_014727.2(KMT2B):c.4545C>A (p.Tyr1515Ter) (rs1057519284)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000415597 SCV000493962 pathogenic Dystonia 28, childhood-onset 2017-02-01 no assertion criteria provided literature only
SIB Swiss Institute of Bioinformatics RCV000415597 SCV000787501 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).

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