Submissions for variant NM_000143.4(FH):c.1237-50TC[20]

dbSNP: rs144131869

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000276737	SCV000356676	uncertain significance	Hereditary leiomyomatosis and renal cell cancer	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000276737	SCV000356677	uncertain significance	Hereditary leiomyomatosis and renal cell cancer	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000386377	SCV000356678	uncertain significance	Fumarase deficiency	2016-06-14	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000456048	SCV000539177	uncertain significance	not specified	2016-03-28	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: See variant below
Mendelics	RCV000386377	SCV001135604	benign	Fumarase deficiency	2019-05-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001636853	SCV001852661	benign	not provided	2019-08-09	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002257627	SCV002535136	benign	Hereditary cancer-predisposing syndrome	2021-06-07	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000456048	SCV002568077	benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000456048	SCV002033817	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000456048	SCV002036438	benign	not specified		no assertion criteria provided	clinical testing