Submissions for variant NM_020975.6(RET):c.2554A>G (p.Ile852Val)

dbSNP: rs561276725

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080707	SCV000290549	likely benign	Multiple endocrine neoplasia, type 2	2024-01-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001015912	SCV001176804	benign	Hereditary cancer-predisposing syndrome	2021-09-01	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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316302	SCV004017365	likely benign	Multiple endocrine neoplasia type 2B	2023-07-07	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004791362	SCV005403673	likely benign	Multiple endocrine neoplasia type 2A	2024-08-13	criteria provided, single submitter	clinical testing	This variant is considered likely benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.
PreventionGenetics, part of Exact Sciences	RCV004739633	SCV000807031	likely benign	RET-related disorder	2024-05-16	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).