Submissions for variant NM_020975.6(RET):c.1017G>A (p.Ser339=)

gnomAD frequency: 0.00014  dbSNP: rs369810881

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000204203	SCV000261939	likely benign	Multiple endocrine neoplasia, type 2	2024-01-25	criteria provided, single submitter	clinical testing
Counsyl	RCV000409969	SCV000489807	likely benign	Multiple endocrine neoplasia, type 2b	2016-04-13	criteria provided, single submitter	clinical testing
Counsyl	RCV000411051	SCV000489808	likely benign	Multiple endocrine neoplasia, type 2a	2016-04-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000573318	SCV000674808	likely benign	Hereditary cancer-predisposing syndrome	2015-12-03	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.
Sema4, Sema4	RCV000573318	SCV002529905	likely benign	Hereditary cancer-predisposing syndrome	2020-07-15	criteria provided, single submitter	curation
Myriad Genetics, Inc.	RCV000411051	SCV004018041	benign	Multiple endocrine neoplasia, type 2a	2023-04-17	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
CeGaT Center for Human Genetics Tuebingen	RCV003417752	SCV004127590	likely benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	RET: BP4, BP7
Color Diagnostics, LLC DBA Color Health	RCV000204203	SCV004357225	likely benign	Multiple endocrine neoplasia, type 2	2022-11-06	criteria provided, single submitter	clinical testing