Submissions for variant NM_020975.6(RET):c.750C>T (p.Arg250=)

gnomAD frequency: 0.00001  dbSNP: rs1013952995

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001209376	SCV001380808	likely benign	Multiple endocrine neoplasia, type 2	2023-10-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002393470	SCV002671909	likely benign	Hereditary cancer-predisposing syndrome	2020-09-16	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.
Fulgent Genetics, Fulgent Genetics	RCV002480689	SCV002786650	uncertain significance	Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A	2022-03-02	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004538450	SCV004709907	likely benign	RET-related disorder	2020-08-24	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).