Submissions for variant NM_020975.6(RET):c.1197G>A (p.Pro399=)

gnomAD frequency: 0.00108  dbSNP: rs148371113

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163896	SCV000214488	likely benign	Hereditary cancer-predisposing syndrome	2014-10-20	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001079831	SCV000253554	benign	Multiple endocrine neoplasia, type 2	2025-02-04	criteria provided, single submitter	clinical testing
Counsyl	RCV000410397	SCV000489985	likely benign	Multiple endocrine neoplasia type 2B	2016-09-06	criteria provided, single submitter	clinical testing
Counsyl	RCV000411900	SCV000489986	likely benign	Multiple endocrine neoplasia type 2A	2016-09-06	criteria provided, single submitter	clinical testing
GeneDx	RCV000679712	SCV000730533	likely benign	not provided	2019-08-21	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 15744028, 17088437)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001731412	SCV001983653	benign	not specified	2021-09-13	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001731412	SCV002065730	likely benign	not specified	2020-12-03	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000163896	SCV002529917	likely benign	Hereditary cancer-predisposing syndrome	2021-04-01	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000410397	SCV004017363	benign	Multiple endocrine neoplasia type 2B	2023-07-07	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000679712	SCV004563831	likely benign	not provided	2023-03-28	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004528908	SCV000806997	likely benign	RET-related disorder	2021-02-18	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).