Submissions for variant NM_004168.4(SDHA):c.313-19G>T

gnomAD frequency: 0.00235  dbSNP: rs185555941

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000411801	SCV000488675	likely benign	Paragangliomas 5	2016-05-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000443248	SCV000520350	likely benign	not specified	2018-01-09	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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV001528662	SCV002009956	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Invitae	RCV002058842	SCV002440955	benign	Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003168597	SCV003901075	benign	Hereditary cancer-predisposing syndrome	2023-03-01	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000411801	SCV004015407	likely benign	Paragangliomas 5	2023-07-07	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000411801	SCV004018605	likely benign	Paragangliomas 5	2023-04-21	criteria provided, single submitter	clinical testing	This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001528662	SCV004564869	likely benign	not provided	2023-10-13	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528662	SCV001740787	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001528662	SCV001808497	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001528662	SCV001958811	likely benign	not provided		no assertion criteria provided	clinical testing