Submissions for variant NM_014159.7(SETD2):c.3229A>G (p.Thr1077Ala)

gnomAD frequency: 0.00095  dbSNP: rs114719990

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000556656	SCV000655731	likely benign	Luscan-Lumish syndrome	2023-08-24	criteria provided, single submitter	clinical testing
GeneDx	RCV001529297	SCV001756841	benign	not provided	2018-11-20	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000556656	SCV002553669	benign	Luscan-Lumish syndrome	2022-03-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001529297	SCV004154380	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	SETD2: BS1, BS2
Ambry Genetics	RCV004019695	SCV004947453	likely benign	Inborn genetic diseases	2021-07-09	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	RCV000122029	SCV000086240	not provided	not specified	2013-09-19	no assertion provided	reference population
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529297	SCV001742512	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001529297	SCV001799839	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004530036	SCV004739976	likely benign	SETD2-related disorder	2022-09-01	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).