Submissions for variant NM_144997.7(FLCN):c.1692C>T (p.His564=)

gnomAD frequency: 0.00005  dbSNP: rs201810397

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000164247	SCV000214871	likely benign	Hereditary cancer-predisposing syndrome	2015-07-21	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	RCV000229534	SCV000291439	benign	Birt-Hogg-Dube syndrome	2024-01-19	criteria provided, single submitter	clinical testing
GeneDx	RCV001704194	SCV000724431	likely benign	not provided	2021-09-20	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000164247	SCV002530125	likely benign	Hereditary cancer-predisposing syndrome	2021-12-05	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV002267909	SCV002551225	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002485016	SCV002797764	likely benign	Birt-Hogg-Dube syndrome; Familial spontaneous pneumothorax; Potocki-Lupski syndrome; Nonpapillary renal cell carcinoma; Colorectal cancer	2021-08-12	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000229534	SCV004015739	likely benign	Birt-Hogg-Dube syndrome	2023-07-07	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001704194	SCV004219710	likely benign	not provided	2022-10-21	criteria provided, single submitter	clinical testing