Submissions for variant NM_014159.7(SETD2):c.5666T>C (p.Met1889Thr)

gnomAD frequency: 0.00068  dbSNP: rs148097513

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000535367	SCV000655755	likely benign	Luscan-Lumish syndrome	2024-11-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002527913	SCV003542929	likely benign	Inborn genetic diseases	2021-06-30	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	RCV003992326	SCV004811221	benign	not provided	2025-01-01	criteria provided, single submitter	clinical testing	SETD2: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV003992326	SCV005261295	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV004530571	SCV004738229	benign	SETD2-related disorder	2019-09-20	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).