ClinVar Miner

Submissions for variant NM_001193466.2(KANSL1):c.1042C>T (p.Arg348Ter) (rs1427624649)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622541 SCV000742382 pathogenic Inborn genetic diseases 2017-05-11 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000852304 SCV000994929 pathogenic Koolen-de Vries syndrome 2019-06-05 criteria provided, single submitter curation This variant is interpreted as a Pathogenic for Koolen-De Vries syndrome, autosomal dominant. 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. PVS1: Predicted nullvariant in a gene where LOF is a known mechanism of disease.
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV000852304 SCV001423660 pathogenic Koolen-de Vries syndrome 2018-05-31 criteria provided, single submitter clinical testing [ACMG/AMP: PVS1, PS2, PM2, PP5] This alteration is a null variant in a gene where LOF is a known mechanism of disease [PVS1], is de novo in origin as it was not detected in the submitted parental specimens (identity confirmed) [PS2], is absent from or rarely observed in large-scale population databases [PM2], was reported as a pathogenic/likely pathogenic alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory) [PP5].
Diagnostic Laboratory, Strasbourg University Hospital RCV001257584 SCV001434394 pathogenic Intellectual disability 2020-04-20 criteria provided, single submitter clinical testing

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