Submissions for variant NM_020975.6(RET):c.1264-4C>T

gnomAD frequency: 0.00002  dbSNP: rs587780806

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000123293	SCV000166600	likely benign	Multiple endocrine neoplasia, type 2	2025-02-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000163859	SCV000214446	benign	Hereditary cancer-predisposing syndrome	2023-03-02	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	RCV000411309	SCV000490083	likely benign	Multiple endocrine neoplasia type 2B	2016-10-31	criteria provided, single submitter	clinical testing
Counsyl	RCV000409285	SCV000490084	likely benign	Multiple endocrine neoplasia type 2A	2016-10-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001725980	SCV001961203	likely benign	not provided	2021-09-01	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV004595929	SCV005090841	likely benign	not specified	2024-07-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004530052	SCV004723653	likely benign	RET-related disorder	2020-10-22	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).