Submissions for variant NM_144997.7(FLCN):c.42C>T (p.His14=)

gnomAD frequency: 0.00001  dbSNP: rs766288960

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000227689	SCV000291444	likely benign	Birt-Hogg-Dube syndrome	2025-01-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000570789	SCV000673429	likely benign	Hereditary cancer-predisposing syndrome	2017-09-13	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	RCV000601530	SCV000727163	likely benign	not specified	2018-01-23	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CeGaT Center for Human Genetics Tuebingen	RCV003409358	SCV004142324	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	FLCN: BP4, BP7
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000601530	SCV005090308	likely benign	not specified	2025-03-04	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV005246907	SCV005896336	benign	Birt-Hogg-Dube syndrome 1	2024-10-22	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.
PreventionGenetics, part of Exact Sciences	RCV003897568	SCV004713723	likely benign	FLCN-related disorder	2022-02-03	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).