Submissions for variant NM_001256715.2(DNAAF3):c.832G>A (p.Ala278Thr)

gnomAD frequency: 0.00187  dbSNP: rs200775946

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000392333	SCV000414816	uncertain significance	Primary ciliary dyskinesia	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000392333	SCV000561297	likely benign	Primary ciliary dyskinesia	2024-01-09	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000595456	SCV000702115	uncertain significance	not provided	2016-10-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000392333	SCV002700228	benign	Primary ciliary dyskinesia	2016-09-28	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.
CeGaT Center for Human Genetics Tuebingen	RCV000595456	SCV004011108	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	DNAAF3: BS2
PreventionGenetics, part of Exact Sciences	RCV003912383	SCV004732448	likely benign	DNAAF3-related disorder	2023-08-09	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).