Submissions for variant NM_020975.6(RET):c.951G>A (p.Thr317=)

dbSNP: rs375812189

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000205297	SCV000259694	likely benign	Multiple endocrine neoplasia, type 2	2024-12-12	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000251081	SCV000313733	likely benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000574221	SCV000674791	likely benign	Hereditary cancer-predisposing syndrome	2016-03-07	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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	RCV003316129	SCV004017354	likely benign	Multiple endocrine neoplasia type 2B	2023-07-07	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000205297	SCV005430311	likely benign	Multiple endocrine neoplasia, type 2	2024-09-23	criteria provided, single submitter	clinical testing