Submissions for variant NM_130810.4(DNAAF4):c.1249G>T (p.Glu417Ter)

gnomAD frequency: 0.18601  dbSNP: rs57809907

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000245931	SCV000315374	benign	not specified		criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000245931	SCV000539071	benign	not specified	2016-03-29	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency, variant associated with dyslexia
Invitae	RCV001521436	SCV001730781	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001659679	SCV001875879	benign	Primary ciliary dyskinesia 25	2021-07-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001521436	SCV001950739	benign	not provided	2018-12-17	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23341075, 12954984, 31213628)
OMIM	RCV000002218	SCV000022376	risk factor	Dyslexia, susceptibility to, 1	2003-09-30	no assertion criteria provided	literature only