Submissions for variant NM_015443.4(KANSL1):c.296A>G (p.Gln99Arg)

gnomAD frequency: 0.00006  dbSNP: rs754727332

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000187754	SCV000241351	likely benign	not specified	2017-08-28	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000703594	SCV000832500	benign	Koolen-de Vries syndrome	2023-08-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002514010	SCV003685781	likely benign	Inborn genetic diseases	2021-09-01	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV003416115	SCV004140755	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	KANSL1: BS2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	RCV001251790	SCV001427532	likely benign	Intellectual disability	2019-01-01	no assertion criteria provided	clinical testing