Submissions for variant NM_020975.6(RET):c.3187+47T>C

gnomAD frequency: 0.84041  dbSNP: rs2075912

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000151742	SCV000200120	benign	not specified	2013-06-11	criteria provided, single submitter	clinical testing	This is the major allele (http://gnomad.broadinstitute.org/variant/10-43622217-T -C).
Labcorp Genetics (formerly Invitae), Labcorp	RCV001520525	SCV001729634	benign	Multiple endocrine neoplasia, type 2	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001795262	SCV002033571	benign	Multiple endocrine neoplasia type 2A	2021-11-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001795263	SCV002033574	benign	Multiple endocrine neoplasia type 2B	2021-11-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001795261	SCV002033575	benign	Pheochromocytoma	2021-11-07	criteria provided, single submitter	clinical testing
Genetics and Molecular Pathology, SA Pathology	RCV001520525	SCV002761349	benign	Multiple endocrine neoplasia, type 2	2019-08-06	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001795263	SCV004017337	benign	Multiple endocrine neoplasia type 2B	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004718060	SCV005319285	benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV004739477	SCV000313726	benign	RET-related disorder	2022-01-07	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).