Submissions for variant NM_001277115.2(DNAH11):c.9935A>T (p.Asp3312Val)

gnomAD frequency: 0.00307  dbSNP: rs72657389

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150449	SCV000197635	likely benign	not specified	2015-09-30	criteria provided, single submitter	clinical testing	p.Asp3312Val in exon 61 of DNAH11: This variant is not expected to have clinical significance because it has been identified in 0.7% (88/12864) of European chro mosomes, including 1 homozygote by the Exome Aggregation Consortium (ExAC, http: //exac.broadinstitute.org; dbSNP rs72657389).
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080094	SCV000287041	benign	Primary ciliary dyskinesia	2021-12-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000150449	SCV000307612	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000767007	SCV000620056	uncertain significance	not provided	2024-03-21	criteria provided, single submitter	clinical testing	Has been previously reported as a likely benign and benign variant (PMID: 30819905, 22184204); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22184204, 33111339, 30819905)
Illumina Laboratory Services, Illumina	RCV001164291	SCV001326406	likely benign	Primary ciliary dyskinesia 7	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
CeGaT Center for Human Genetics Tuebingen	RCV000767007	SCV002062736	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	DNAH11: BP4, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001164291	SCV003800123	likely benign	Primary ciliary dyskinesia 7	2022-10-21	criteria provided, single submitter	clinical testing