Submissions for variant NM_001277115.2(DNAH11):c.58C>A (p.Arg20Ser)

gnomAD frequency: 0.00188  dbSNP: rs72655967

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000202747	SCV000257883	uncertain significance	not specified	2015-06-16	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000202747	SCV000269002	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Arg20Ser in exon 1 of DNAH11: This variant is not expected to have clinical sign ificance because it has been identified in 3.8% (5/132) of Mexican chromosomes f rom a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.gov/ projects/SNP; dbSNP rs72655967).
Invitae	RCV001081984	SCV000287012	benign	Primary ciliary dyskinesia	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000202747	SCV000307544	benign	not specified		criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000430697	SCV000510848	likely benign	not provided	2017-02-16	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
GeneDx	RCV000430697	SCV002072793	likely benign	not provided	2022-01-28	criteria provided, single submitter	clinical testing