Submissions for variant NM_144997.7(FLCN):c.867C>T (p.Leu289=)

gnomAD frequency: 0.00007  dbSNP: rs367562964

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000532846	SCV000632895	likely benign	Birt-Hogg-Dube syndrome	2024-01-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001018172	SCV001179368	likely benign	Hereditary cancer-predisposing syndrome	2019-06-20	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.
GeneDx	RCV001563418	SCV001786353	likely benign	not provided	2021-02-03	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001018172	SCV002530159	likely benign	Hereditary cancer-predisposing syndrome	2021-03-31	criteria provided, single submitter	curation
Fulgent Genetics, Fulgent Genetics	RCV002497104	SCV002796534	likely benign	Birt-Hogg-Dube syndrome; Familial spontaneous pneumothorax; Potocki-Lupski syndrome; Nonpapillary renal cell carcinoma; Colorectal cancer	2022-03-24	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003942771	SCV004758193	likely benign	FLCN-related disorder	2023-04-05	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).