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

gnomAD frequency: 0.00006  dbSNP: rs754727332

Total submissions: 6

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.
Labcorp Genetics (formerly Invitae), Labcorp	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
Breakthrough Genomics, Breakthrough Genomics	RCV003416115	SCV005212953	likely benign	not provided		criteria provided, single submitter	not provided
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