Submissions for variant NM_000506.5(F2):c.798C>T (p.Asp266=)

gnomAD frequency: 0.00019  dbSNP: rs138260543

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000262207	SCV000372093	uncertain significance	Thrombophilia due to thrombin defect	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV002468939	SCV000372094	uncertain significance	Congenital prothrombin deficiency	2016-06-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002418154	SCV002678071	likely benign	Inborn genetic diseases	2022-09-26	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.
CeGaT Center for Human Genetics Tuebingen	RCV003391074	SCV004130061	likely benign	not provided	2022-05-01	criteria provided, single submitter	clinical testing	F2: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp	RCV002468939	SCV004272074	benign	Congenital prothrombin deficiency	2024-01-31	criteria provided, single submitter	clinical testing