Submissions for variant NM_144997.7(FLCN):c.756G>A (p.Ala252=)

dbSNP: rs746664975

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000876453	SCV001019027	likely benign	Birt-Hogg-Dube syndrome	2023-07-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001026577	SCV001188985	likely benign	Hereditary cancer-predisposing syndrome	2019-05-05	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.
Fulgent Genetics, Fulgent Genetics	RCV002501347	SCV002809633	likely benign	Birt-Hogg-Dube syndrome; Familial spontaneous pneumothorax; Potocki-Lupski syndrome; Nonpapillary renal cell carcinoma; Colorectal cancer	2022-04-19	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV003321758	SCV004026711	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing