Submissions for variant NM_015443.4(KANSL1):c.607G>C (p.Gly203Arg)

gnomAD frequency: 0.00156  dbSNP: rs138175526

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000435502	SCV000513321	benign	not specified	2016-08-08	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	RCV001080267	SCV000559741	benign	Koolen-de Vries syndrome	2025-01-06	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000513930	SCV000609720	benign	not provided	2017-06-16	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000513930	SCV001144292	benign	not provided	2018-11-29	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001080267	SCV002807357	likely benign	Koolen-de Vries syndrome	2021-07-26	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000513930	SCV004140751	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	KANSL1: BP4, BS1
Breakthrough Genomics, Breakthrough Genomics	RCV000513930	SCV005249264	benign	not provided		criteria provided, single submitter	not provided