Submissions for variant NM_000245.4(MET):c.3798+5T>C

gnomAD frequency: 0.00012  dbSNP: rs368150874

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163837	SCV000214423	likely benign	Hereditary cancer-predisposing syndrome	2021-11-17	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000196883	SCV000254687	likely benign	Renal cell carcinoma	2024-01-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000826579	SCV000968167	likely benign	not provided	2021-10-26	criteria provided, single submitter	clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV000826579	SCV002011106	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000163837	SCV002532157	uncertain significance	Hereditary cancer-predisposing syndrome	2021-07-30	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV000826579	SCV004158936	uncertain significance	not provided	2023-08-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003927541	SCV004740000	likely benign	MET-related disorder	2022-03-11	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).