Submissions for variant NM_018076.5(ODAD2):c.198A>C (p.Ser66=)

gnomAD frequency: 0.00076  dbSNP: rs143338979

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000471642	SCV000563525	benign	Primary ciliary dyskinesia 23	2025-01-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002461231	SCV002756006	likely benign	Primary ciliary dyskinesia	2016-09-14	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
CeGaT Center for Human Genetics Tuebingen	RCV004721389	SCV005330381	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	ODAD2: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003942579	SCV004759420	likely benign	ODAD2-related disorder	2020-01-20	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).