Submissions for variant NM_001329943.3(KIAA0586):c.974A>T (p.Glu325Val)

gnomAD frequency: 0.00204  dbSNP: rs144456198

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000652583	SCV000774453	benign	Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001565608	SCV001788985	likely benign	not provided	2021-01-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002531998	SCV003754785	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	RCV001565608	SCV004134163	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	KIAA0586: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001565608	SCV005212080	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003937985	SCV004751189	likely benign	KIAA0586-related disorder	2020-05-18	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).