Submissions for variant NM_006767.4(LZTR1):c.918G>A (p.Thr306=)

dbSNP: rs367738742

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000951677	SCV001098100	likely benign	not provided	2025-02-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002372652	SCV002687052	likely benign	Hereditary cancer-predisposing syndrome; Cardiovascular phenotype	2020-09-02	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003323765	SCV004029017	benign	not specified	2023-07-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004726742	SCV005337916	likely benign	LZTR1-related disorder	2024-04-04	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).