Submissions for variant NM_144997.7(FLCN):c.450T>C (p.Phe150=)

gnomAD frequency: 0.00003  dbSNP: rs200672897

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000230449	SCV000291445	benign	Birt-Hogg-Dube syndrome	2024-01-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000561895	SCV000673424	likely benign	Hereditary cancer-predisposing syndrome	2015-07-27	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.
GeneDx	RCV001705294	SCV000729822	likely benign	not provided	2019-08-27	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000561895	SCV002530141	likely benign	Hereditary cancer-predisposing syndrome	2021-08-25	criteria provided, single submitter	curation
Fulgent Genetics, Fulgent Genetics	RCV002494668	SCV002801998	likely benign	Birt-Hogg-Dube syndrome; Familial spontaneous pneumothorax; Potocki-Lupski syndrome; Nonpapillary renal cell carcinoma; Colorectal cancer	2021-09-17	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003955375	SCV004771165	likely benign	FLCN-related condition	2022-07-05	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).