Submissions for variant NM_006767.4(LZTR1):c.1377C>T (p.His459=)

gnomAD frequency: 0.00009  dbSNP: rs752985853

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000876804	SCV001019425	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001201324	SCV001372468	benign	not specified	2020-06-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002382008	SCV002699512	likely benign	Hereditary cancer-predisposing syndrome; Cardiovascular phenotype	2020-08-31	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	RCV000876804	SCV002821107	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	LZTR1: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV004541757	SCV004770253	likely benign	LZTR1-related disorder	2024-01-31	criteria provided, single submitter	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).