Submissions for variant NM_144997.7(FLCN):c.931C>T (p.Pro311Ser)

gnomAD frequency: 0.00029  dbSNP: rs140246224

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000535547	SCV000632901	likely benign	Birt-Hogg-Dube syndrome	2024-01-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000564648	SCV000673413	likely benign	Hereditary cancer-predisposing syndrome	2020-11-16	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	RCV001584259	SCV001819417	likely benign	not provided	2020-09-23	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000564648	SCV002530166	uncertain significance	Hereditary cancer-predisposing syndrome	2021-09-03	criteria provided, single submitter	curation
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001584259	SCV004219739	likely benign	not provided	2022-10-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003942772	SCV004761327	likely benign	FLCN-related condition	2022-10-17	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).