Submissions for variant NM_020975.6(RET):c.1050C>T (p.Thr350=)

gnomAD frequency: 0.00031  dbSNP: rs142188675

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001079493	SCV000290526	benign	Multiple endocrine neoplasia, type 2	2024-01-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000569281	SCV000674770	likely benign	Hereditary cancer-predisposing syndrome	2016-06-27	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001812652	SCV000884454	benign	not provided	2020-07-10	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000569281	SCV002529908	likely benign	Hereditary cancer-predisposing syndrome	2021-07-13	criteria provided, single submitter	curation
Fulgent Genetics, Fulgent Genetics	RCV002500809	SCV002813725	likely benign	Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia, type 2b; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia, type 2a	2022-05-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003939884	SCV004748061	likely benign	RET-related condition	2019-07-03	criteria provided, single submitter	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).