Submissions for variant NM_173660.5(DOK7):c.1143C>T (p.Pro381=)

gnomAD frequency: 0.01415  dbSNP: rs56769879

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000116886	SCV000232355	benign	not specified	2014-12-16	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000116886	SCV000316515	benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000535254	SCV000640936	benign	Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10	2025-02-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000116886	SCV000714654	benign	not specified	2017-08-03	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.
Breakthrough Genomics, Breakthrough Genomics	RCV004715674	SCV005304679	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000116886	SCV000150972	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.