Submissions for variant NM_001277115.2(DNAH11):c.9097A>G (p.Ile3033Val)

gnomAD frequency: 0.00428  dbSNP: rs72657373

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150448	SCV000197634	benign	not specified	2015-09-03	criteria provided, single submitter	clinical testing	p.Ile3033Val in exon 55 of DNAH11: This variant is not expected to have clinical significance because it has been identified in 3.6% (373/10238) of Latino chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs72657373).
Invitae	RCV000205997	SCV000262506	benign	Primary ciliary dyskinesia	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000150448	SCV000307597	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000205997	SCV000468174	uncertain significance	Primary ciliary dyskinesia	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001705981	SCV001846761	benign	not provided	2020-12-24	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 18492703, 31213628)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003114294	SCV003800247	likely benign	Primary ciliary dyskinesia 7	2023-10-06	criteria provided, single submitter	clinical testing