Submissions for variant NM_006767.4(LZTR1):c.2103C>T (p.Pro701=)

dbSNP: rs139080986

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000875275	SCV000723501	benign	not provided	2019-08-22	criteria provided, single submitter	clinical testing
Invitae	RCV000875275	SCV001017574	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000612664	SCV001362581	benign	not specified	2019-11-16	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001813524	SCV002060535	likely benign	Noonan syndrome and Noonan-related syndrome	2020-06-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002420629	SCV002728378	likely benign	Hereditary cancer-predisposing syndrome; Cardiovascular phenotype	2019-02-01	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	RCV000875275	SCV004152229	benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	LZTR1: BP4, BP7, BS1, BS2