Submissions for variant NM_000143.4(FH):c.178C>T (p.Leu60=)

gnomAD frequency: 0.00001  dbSNP: rs201146499

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002536782	SCV001009449	likely benign	not provided	2025-01-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002399909	SCV002712980	likely benign	Hereditary cancer-predisposing syndrome	2020-06-24	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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV003493752	SCV004243530	likely benign	not specified	2025-03-04	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV005249185	SCV005897829	benign	Hereditary leiomyomatosis and renal cell cancer	2024-10-17	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.