Submissions for variant NM_020975.6(RET):c.2418C>T (p.Tyr806=)

gnomAD frequency: 0.00005  dbSNP: rs553418132

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000551962	SCV000658450	likely benign	Multiple endocrine neoplasia, type 2	2024-01-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000568889	SCV000674773	likely benign	Hereditary cancer-predisposing syndrome	2016-02-05	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.
Illumina Laboratory Services, Illumina	RCV001102859	SCV001259551	benign	Multiple endocrine neoplasia	2018-02-12	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV001102860	SCV001259552	benign	Pheochromocytoma	2018-02-12	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV001104777	SCV001261664	likely benign	Renal hypodysplasia/aplasia 1	2018-02-12	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV001104778	SCV001261665	likely benign	Hirschsprung disease, susceptibility to, 1	2018-02-12	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Center for Human Genetics Tuebingen	RCV001815346	SCV002062910	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	RET: BP4, BP7
Genetic Services Laboratory, University of Chicago	RCV001821653	SCV002068678	likely benign	not specified	2020-12-03	criteria provided, single submitter	clinical testing