Submissions for variant NM_001098.3(ACO2):c.192A>C (p.Thr64=)

gnomAD frequency: 0.29094  dbSNP: rs137831

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000116216	SCV000166818	benign	not specified	2013-10-24	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.
PreventionGenetics, part of Exact Sciences	RCV000116216	SCV000306523	benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV000676883	SCV001718039	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001548941	SCV001768953	benign	Optic atrophy 9	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001548942	SCV001768954	benign	Infantile cerebellar-retinal degeneration	2021-07-14	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000116216	SCV000150125	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Mayo Clinic Laboratories, Mayo Clinic	RCV000676883	SCV000802697	benign	not provided	2016-02-23	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000116216	SCV001739778	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000116216	SCV001959507	benign	not specified		no assertion criteria provided	clinical testing