Submissions for variant NM_001256715.2(DNAAF3):c.531C>T (p.Gly177=)

gnomAD frequency: 0.00192  dbSNP: rs559008223

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000330954	SCV000414820	uncertain significance	Primary ciliary dyskinesia	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000360527	SCV000483843	likely benign	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000402096	SCV000483844	likely benign	Hypertrophic cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000303068	SCV000483845	likely benign	Dilated Cardiomyopathy, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000355563	SCV000483846	likely benign	Familial restrictive cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000330954	SCV001004447	benign	Primary ciliary dyskinesia	2023-12-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003418040	SCV004145521	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	DNAAF3: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003950131	SCV004767568	benign	DNAAF3-related condition	2022-01-10	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).