Submissions for variant NM_018076.5(ODAD2):c.2058T>C (p.Asn686=)

gnomAD frequency: 0.51292  dbSNP: rs7893462

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000247772	SCV000313137	benign	not specified		criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000247772	SCV000538354	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
Labcorp Genetics (formerly Invitae), Labcorp	RCV001520448	SCV001729542	benign	Primary ciliary dyskinesia 23	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001520448	SCV001775272	benign	Primary ciliary dyskinesia 23	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001668558	SCV001887113	benign	not provided	2018-11-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002461051	SCV002755604	benign	Primary ciliary dyskinesia	2016-07-07	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics	RCV001668558	SCV005316438	benign	not provided		criteria provided, single submitter	not provided