Submissions for variant NM_001277115.2(DNAH11):c.11272T>C (p.Ser3758Pro)

gnomAD frequency: 0.08574  dbSNP: rs17145720

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150456	SCV000197642	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Ser3758Pro in exon 69 of DNAH11: This variant is not expected to have clinical s ignificance because it has been identified in 20.2% (833/4116) of African Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs17145720).
PreventionGenetics, part of Exact Sciences	RCV000150456	SCV000307431	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000374080	SCV000468206	likely benign	Primary ciliary dyskinesia	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000374080	SCV000561955	benign	Primary ciliary dyskinesia	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001573095	SCV001833876	benign	not provided	2018-12-17	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573095	SCV001798453	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000150456	SCV001964514	benign	not specified		no assertion criteria provided	clinical testing