Submissions for variant NM_014444.5(TUBGCP4):c.967G>T (p.Val323Leu)

gnomAD frequency: 0.00057  dbSNP: rs191224065

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000974021	SCV001121825	benign	not provided	2024-01-26	criteria provided, single submitter	clinical testing
GeneDx	RCV000974021	SCV001793240	likely benign	not provided	2020-03-30	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001819140	SCV002068328	benign	not specified	2018-04-09	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000974021	SCV002497768	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	TUBGCP4: BS2
Ambry Genetics	RCV002548386	SCV003596307	likely benign	Inborn genetic diseases	2021-06-30	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.
Breakthrough Genomics, Breakthrough Genomics	RCV000974021	SCV005214586	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003918540	SCV004744981	benign	TUBGCP4-related disorder	2019-08-29	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).