Submissions for variant NM_020975.6(RET):c.2284+54C>A

dbSNP: rs566375223

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000205741	SCV000261226	benign	Multiple endocrine neoplasia, type 2	2023-01-26	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000727042	SCV000705107	uncertain significance	not provided	2017-01-09	criteria provided, single submitter	clinical testing
GeneDx	RCV000597255	SCV000723971	likely benign	not specified	2018-02-01	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.
Counsyl	RCV000663014	SCV000786030	likely benign	Multiple endocrine neoplasia type 2A	2018-02-06	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002256118	SCV002529970	likely benign	Hereditary cancer-predisposing syndrome	2020-09-21	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV000727042	SCV002821503	likely benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	RET: BS1