Submissions for variant NM_014159.7(SETD2):c.5900G>A (p.Gly1967Asp)

gnomAD frequency: 0.00031  dbSNP: rs143991928

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000122016	SCV000597005	uncertain significance	not specified	2016-11-23	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000652643	SCV000774514	benign	Luscan-Lumish syndrome	2023-11-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001719891	SCV001947239	benign	not provided	2019-03-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002514650	SCV003674222	likely benign	Inborn genetic diseases	2022-11-09	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.
ITMI	RCV000122016	SCV000086227	not provided	not specified	2013-09-19	no assertion provided	reference population
PreventionGenetics, part of Exact Sciences	RCV004530034	SCV004746833	benign	SETD2-related disorder	2019-09-24	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).