Submissions for variant NM_001329943.3(KIAA0586):c.4629G>A (p.Ser1543=)

gnomAD frequency: 0.00272  dbSNP: rs61745066

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000878151	SCV001021010	benign	Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly	2025-01-27	criteria provided, single submitter	clinical testing
GeneDx	RCV001534101	SCV001750999	likely benign	not provided	2024-06-13	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Fulgent Genetics, Fulgent Genetics	RCV000878151	SCV002803551	likely benign	Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly	2021-07-06	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001534101	SCV004701661	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	KIAA0586: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001534101	SCV005212103	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003908358	SCV004726583	benign	KIAA0586-related disorder	2019-08-28	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).