Submissions for variant NM_144997.7(FLCN):c.1059G>A (p.Arg353=)

gnomAD frequency: 0.00001  dbSNP: rs751513488

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000166276	SCV000217057	likely benign	Hereditary cancer-predisposing syndrome	2014-10-13	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	RCV001697199	SCV000534491	likely benign	not provided	2018-08-17	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000549982	SCV000632819	likely benign	Birt-Hogg-Dube syndrome	2025-01-29	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000166276	SCV002530090	likely benign	Hereditary cancer-predisposing syndrome	2021-11-16	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV002267915	SCV002551342	likely benign	not specified	2025-03-04	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV005246729	SCV005897795	benign	Birt-Hogg-Dube syndrome 1	2024-10-23	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.