Submissions for variant NM_173660.5(DOK7):c.782G>A (p.Arg261His)

gnomAD frequency: 0.01070  dbSNP: rs16844460

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000116895	SCV000316549	benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV001081916	SCV000640970	benign	Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000116895	SCV000714933	benign	not specified	2017-11-25	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.
Athena Diagnostics Inc	RCV000530358	SCV001143786	benign	not provided	2018-10-25	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002498507	SCV002811252	likely benign	Congenital myasthenic syndrome 10; Fetal akinesia deformation sequence 3	2021-07-30	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000116895	SCV000150981	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.