Submissions for variant NM_020975.6(RET):c.2298G>A (p.Pro766=)

gnomAD frequency: 0.00003  dbSNP: rs140658743

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000205891	SCV000261436	likely benign	Multiple endocrine neoplasia, type 2	2024-01-29	criteria provided, single submitter	clinical testing
Counsyl	RCV000412216	SCV000489995	likely benign	Multiple endocrine neoplasia, type 2b	2016-09-12	criteria provided, single submitter	clinical testing
Counsyl	RCV000410239	SCV000489996	likely benign	Multiple endocrine neoplasia, type 2a	2016-09-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001015052	SCV001175841	likely benign	Hereditary cancer-predisposing syndrome	2018-08-29	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.
GeneDx	RCV002225506	SCV002504181	uncertain significance	not provided	2021-10-25	criteria provided, single submitter	clinical testing	In-silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Observed in an individual with Hirschsprung disease (Jannot et al., 2012); This variant is associated with the following publications: (PMID: 28873162, 22395866)
Sema4, Sema4	RCV001015052	SCV002529971	likely benign	Hereditary cancer-predisposing syndrome	2022-01-07	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000412216	SCV004017355	likely benign	Multiple endocrine neoplasia, type 2b	2023-07-07	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000410239	SCV004018482	benign	Multiple endocrine neoplasia, type 2a	2023-04-18	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
CeGaT Center for Human Genetics Tuebingen	RCV002225506	SCV004127604	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	RET: BP4, BP7