Submissions for variant NM_144997.7(FLCN):c.1509C>T (p.Cys503=)

gnomAD frequency: 0.00002  dbSNP: rs927844338

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000600657	SCV000726808	likely benign	not specified	2018-01-11	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001409903	SCV001611937	likely benign	Birt-Hogg-Dube syndrome	2024-10-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002395607	SCV002696945	likely benign	Hereditary cancer-predisposing syndrome	2021-02-02	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.
Breakthrough Genomics, Breakthrough Genomics	RCV004704126	SCV005212259	likely benign	not provided		criteria provided, single submitter	not provided
Myriad Genetics, Inc.	RCV005248436	SCV005897848	benign	Birt-Hogg-Dube syndrome 1	2024-10-25	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.