Submissions for variant NM_001277115.2(DNAH11):c.13305C>T (p.Gly4435=)

gnomAD frequency: 0.00029  dbSNP: rs150682314

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000245209	SCV000307466	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000325201	SCV000468242	uncertain significance	Primary ciliary dyskinesia	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000325201	SCV000624106	benign	Primary ciliary dyskinesia	2024-01-29	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000726713	SCV000702337	uncertain significance	not provided	2016-10-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000726713	SCV001155052	uncertain significance	not provided	2017-01-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000325201	SCV002690329	likely benign	Primary ciliary dyskinesia	2015-06-03	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000726713	SCV001799302	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000726713	SCV001971221	likely benign	not provided		no assertion criteria provided	clinical testing