Submissions for variant NM_001256715.2(DNAAF3):c.529G>A (p.Gly177Ser)

gnomAD frequency: 0.05620  dbSNP: rs58824375

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000250390	SCV000307141	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000250390	SCV000340458	benign	not specified	2016-03-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000369253	SCV000414821	likely benign	Primary ciliary dyskinesia	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000263072	SCV000483847	likely benign	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000297059	SCV000483848	likely benign	Hypertrophic cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000354326	SCV000483849	likely benign	Dilated Cardiomyopathy, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000275944	SCV000483850	likely benign	Familial restrictive cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000250390	SCV000538799	benign	not specified	2016-03-28	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
Invitae	RCV000369253	SCV001730239	benign	Primary ciliary dyskinesia	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001539053	SCV001756786	benign	not provided	2018-07-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000369253	SCV002674947	benign	Primary ciliary dyskinesia	2016-07-15	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.