Submissions for variant NM_020975.6(RET):c.1354C>A (p.Leu452Ile)

gnomAD frequency: 0.00043  dbSNP: rs151148041

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001082963	SCV000556187	likely benign	Multiple endocrine neoplasia, type 2	2025-01-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000561647	SCV000674800	benign	Hereditary cancer-predisposing syndrome	2017-12-05	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Counsyl	RCV000662962	SCV000785934	uncertain significance	Multiple endocrine neoplasia type 2A	2018-01-22	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000730805	SCV000858568	uncertain significance	not provided	2017-12-19	criteria provided, single submitter	clinical testing
GeneDx	RCV000730805	SCV000979865	likely benign	not provided	2018-05-09	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Sema4, Sema4	RCV000561647	SCV002529924	likely benign	Hereditary cancer-predisposing syndrome	2022-02-04	criteria provided, single submitter	curation