Submissions for variant NM_144997.7(FLCN):c.1149C>T (p.Leu383=)

gnomAD frequency: 0.00028  dbSNP: rs150752548

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000723579	SCV000114662	uncertain significance	not provided	2013-02-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000163531	SCV000214089	likely benign	Hereditary cancer-predisposing syndrome	2015-07-03	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.
Invitae	RCV001079714	SCV000291424	benign	Birt-Hogg-Dube syndrome	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000082620	SCV000717702	likely benign	not specified	2018-01-11	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.
CeGaT Center for Human Genetics Tuebingen	RCV000723579	SCV000892516	likely benign	not provided	2018-06-01	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000082620	SCV002066251	benign	not specified	2021-06-17	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000163531	SCV002530097	benign	Hereditary cancer-predisposing syndrome	2021-08-19	criteria provided, single submitter	curation