ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.985_986del (p.Leu329fs)

dbSNP: rs281865473
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000032181 SCV000807287 uncertain significance Koolen-de Vries syndrome 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it twice in our laboratory: in a 7-year-old male with intellectual disability, dysmorphisms, short stature, strabismus, asymmetric prominent ventricles, possible undermylination, amygdala/hippocampal dysgenesis; in a 3-year-old feale with global delays, hypotonia, dysmorphisms, short stature, microcephaly, congenital heart disease, brain & eye anomalies. However, inheritance was not determined, and of note, the promoter and 5' exons of KANSL1 can be partially duplicated in some individuals. Exome and Sanger data could not distinguish if this change is located in the real KANSL1 gene or the duplicated copy of the gene
Mendelics RCV000032181 SCV002516587 pathogenic Koolen-de Vries syndrome 2022-05-04 criteria provided, single submitter clinical testing
GeneReviews RCV000032181 SCV000055765 not provided Koolen-de Vries syndrome no assertion provided literature only
OMIM RCV000032181 SCV000677104 pathogenic Koolen-de Vries syndrome 2018-01-02 no assertion criteria provided literature only

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