Submissions for variant NM_006767.4(LZTR1):c.2187C>T (p.Tyr729=)

gnomAD frequency: 0.00222  dbSNP: rs117346988

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000680957	SCV000808406	likely benign	not provided	2021-09-17	criteria provided, single submitter	clinical testing
Invitae	RCV000680957	SCV001017800	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001193628	SCV001362582	benign	not specified	2019-12-23	criteria provided, single submitter	clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV000680957	SCV002009534	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001813543	SCV002060537	benign	Noonan syndrome and Noonan-related syndrome	2021-03-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002424577	SCV002728550	likely benign	Hereditary cancer-predisposing syndrome; Cardiovascular phenotype	2019-01-03	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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	RCV000680957	SCV004033928	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	LZTR1: BP7, BS2