ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.916C>T (p.Gln306Ter)

dbSNP: rs281865468
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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 RCV000024373 SCV000994928 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.
OMIM RCV000024373 SCV000045666 pathogenic Koolen-de Vries syndrome 2012-04-29 no assertion criteria provided literature only
GeneReviews RCV000024373 SCV000055764 not provided Koolen-de Vries syndrome no assertion provided literature only

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