ClinVar Miner

Submissions for variant NM_001284333.2(TLK2):c.777C>A (p.Tyr259Ter) (rs1567920106)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes RCV000782090 SCV000920561 likely pathogenic not provided 2019-02-13 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000755731 SCV000883231 pathogenic MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 2018-10-15 criteria provided, single submitter curation This variant is interpreted as Pathogenic, for Mental retardation, autosomal dominant 57. The following ACMG Tag(s) were applied: PM6 => Assumed de novo, but without confirmation of paternity and maternity (https://www.ncbi.nlm.nih.gov/pubmed/29861108). PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PVS1 => Predicted nullvariant in a gene where LOF is a known mechanism of disease (https://www.ncbi.nlm.nih.gov/pubmed/29861108).

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