Submissions for variant NM_001277115.2(DNAH11):c.9102+8G>A

gnomAD frequency: 0.01255  dbSNP: rs72657374

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155489	SCV000205187	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	9102+8G>A in intron 55 of DNAH11: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence. It has been identified in 1.8% (155/8422) of European American chromosome s from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.w ashington.edu/EVS; dbSNP rs72657374).
Invitae	RCV000226025	SCV000287033	benign	Primary ciliary dyskinesia	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000155489	SCV000307600	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000226025	SCV000468176	uncertain significance	Primary ciliary dyskinesia	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001706036	SCV001819053	likely benign	not provided	2019-09-06	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003114304	SCV003800147	benign	Primary ciliary dyskinesia 7	2023-10-03	criteria provided, single submitter	clinical testing