Submissions for variant NM_003172.4(SURF1):c.54+10G>A

gnomAD frequency: 0.00276  dbSNP: rs587598397

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000128346	SCV000171939	benign	not specified	2014-04-01	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.
Illumina Laboratory Services, Illumina	RCV000329138	SCV000478295	uncertain significance	Leigh syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000329138	SCV000627067	benign	Leigh syndrome	2024-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000676736	SCV001472706	likely benign	not provided	2021-10-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000676736	SCV004156708	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	SURF1: BS2
Mayo Clinic Laboratories, Mayo Clinic	RCV000676736	SCV000802537	likely benign	not provided	2016-03-02	no assertion criteria provided	clinical testing