Submissions for variant NM_020975.6(RET):c.1371A>T (p.Ser457=)

gnomAD frequency: 0.00007  dbSNP: rs376464605

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000654635	SCV000776529	likely benign	Multiple endocrine neoplasia, type 2	2025-01-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001011190	SCV001171484	likely benign	Hereditary cancer-predisposing syndrome	2018-06-05	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	RCV002493059	SCV002799947	likely benign	Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A	2021-10-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004740389	SCV005360674	likely benign	RET-related disorder	2024-06-10	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).