Submissions for variant NM_000143.4(FH):c.1237-50TC[21]

dbSNP: rs144131869

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000282143	SCV000356679	uncertain significance	Fumarase deficiency	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000373250	SCV000356680	uncertain significance	Hereditary leiomyomatosis and renal cell cancer	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000373250	SCV000356681	uncertain significance	Hereditary leiomyomatosis and renal cell cancer	2016-06-14	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000455309	SCV000539176	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: Expansion of intronic repeat, unlikely to impact splicing. Other expansions near this position (maybe same one? Hard to tell) present in ExAC at moderate frequency (~0.1% E. Asian)
Mendelics	RCV000282143	SCV001135605	likely benign	Fumarase deficiency	2019-05-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001618510	SCV001846017	benign	not provided	2019-08-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002365342	SCV002664059	likely benign	Hereditary cancer-predisposing syndrome	2014-12-16	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001618510	SCV004273566	likely benign	not provided	2024-01-07	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000455309	SCV002568055	likely benign	not specified	2021-09-03	no assertion criteria provided	clinical testing