Submissions for variant NM_144997.7(FLCN):c.1068G>T (p.Leu356=)

gnomAD frequency: 0.00004  dbSNP: rs534904034

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001400098	SCV001601899	likely benign	Birt-Hogg-Dube syndrome	2023-10-08	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002255658	SCV002530092	likely benign	Hereditary cancer-predisposing syndrome	2021-10-11	criteria provided, single submitter	curation
Ambry Genetics	RCV002255658	SCV002720594	likely benign	Hereditary cancer-predisposing syndrome	2019-12-18	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.
Fulgent Genetics, Fulgent Genetics	RCV002504667	SCV002809616	likely benign	Birt-Hogg-Dube syndrome; Familial spontaneous pneumothorax; Potocki-Lupski syndrome; Nonpapillary renal cell carcinoma; Colorectal cancer	2022-04-16	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003898403	SCV004708999	likely benign	FLCN-related disorder	2023-07-13	no assertion criteria provided	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).