Submissions for variant NM_014159.7(SETD2):c.1412G>A (p.Arg471Lys)

gnomAD frequency: 0.00021  dbSNP: rs191313431

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001042552	SCV001206238	benign	Luscan-Lumish syndrome	2024-12-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003438653	SCV004154396	likely benign	not provided	2022-05-01	criteria provided, single submitter	clinical testing	SETD2: BP4
Ambry Genetics	RCV004958387	SCV005495666	likely benign	Inborn genetic diseases	2024-11-20	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.
PreventionGenetics, part of Exact Sciences	RCV004738128	SCV005362018	benign	SETD2-related disorder	2024-08-14	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).