Submissions for variant NM_020975.6(RET):c.337+12G>A

gnomAD frequency: 0.00198  dbSNP: rs200468424

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000351814	SCV000362242	likely benign	Hirschsprung Disease, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000390153	SCV000362243	likely benign	Renal hypodysplasia/aplasia 1	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000312273	SCV000362244	likely benign	Pheochromocytoma	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000346124	SCV000362245	likely benign	Multiple endocrine neoplasia	2016-06-14	criteria provided, single submitter	clinical testing
Counsyl	RCV000410692	SCV000489759	likely benign	Multiple endocrine neoplasia, type 2b	2015-12-07	criteria provided, single submitter	clinical testing
Counsyl	RCV000411730	SCV000489760	likely benign	Multiple endocrine neoplasia, type 2a	2015-12-07	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000605249	SCV000711343	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	337+12G>A in intron 2 of RET: This variant is not expected to have clinical sign ificance because it is not located within the conserved splice consensus sequenc e. It has been identified in 0.5% (21/4388) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washing ton.edu/EVS; dbSNP rs200468424).
GeneDx	RCV000605249	SCV000724888	likely benign	not specified	2017-12-26	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV002059550	SCV002349618	benign	Multiple endocrine neoplasia, type 2	2024-01-31	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002255357	SCV002527910	benign	Hereditary cancer-predisposing syndrome	2020-12-12	criteria provided, single submitter	curation
Ambry Genetics	RCV002255357	SCV002614806	likely benign	Hereditary cancer-predisposing syndrome	2015-04-13	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
CeGaT Center for Human Genetics Tuebingen	RCV003417968	SCV004127585	benign	not provided	2022-03-01	criteria provided, single submitter	clinical testing	RET: BS1, BS2