Submissions for variant NM_001205019.2(GK):c.748-5A>T

gnomAD frequency: 0.00284  dbSNP: rs186543786

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000720980	SCV000851864	benign	History of neurodevelopmental disorder	2014-07-26	criteria provided, single submitter	clinical testing	Does not segregate with disease in family study (genes with incomplete penetrance);General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;Other data supporting benign classification
Labcorp Genetics (formerly Invitae), Labcorp	RCV000884028	SCV001027381	benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000884028	SCV001155939	likely benign	not provided	2018-05-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000884028	SCV005209157	likely benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000884028	SCV001800649	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001727798	SCV001973352	benign	not specified		no assertion criteria provided	clinical testing