Submissions for variant NM_001277115.2(DNAH11):c.6683+13C>G

gnomAD frequency: 0.01337  dbSNP: rs17145077

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000216890	SCV000269004	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	6683+13C>G in intron 40 of DNAH11: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus se quence. It has been identified in 3.6% (132/3686) of African American chromosome s from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.w ashington.edu/EVS; dbSNP rs17145077).
PreventionGenetics, part of Exact Sciences	RCV000216890	SCV000307560	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000326898	SCV000468136	uncertain significance	Primary ciliary dyskinesia	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001530718	SCV001745614	likely benign	not provided	2020-04-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000326898	SCV002402847	benign	Primary ciliary dyskinesia	2024-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV002227095	SCV002506137	benign	Primary ciliary dyskinesia 7	2023-08-07	criteria provided, single submitter	clinical testing