Submissions for variant NM_001277115.2(DNAH11):c.8969G>A (p.Arg2990His)

gnomAD frequency: 0.01466  dbSNP: rs72657371

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000228153	SCV000287028	benign	Primary ciliary dyskinesia	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000253825	SCV000307594	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000228153	SCV000468168	uncertain significance	Primary ciliary dyskinesia	2016-06-14	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000515080	SCV000610679	likely benign	not provided	2017-04-27	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV002227098	SCV002506087	benign	Primary ciliary dyskinesia 7	2023-11-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000228153	SCV002683675	benign	Primary ciliary dyskinesia	2017-04-17	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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.
GeneDx	RCV000515080	SCV004169120	likely benign	not provided	2023-11-15	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.