ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.58C>A (p.Arg20Ser) (rs72655967)

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Total submissions: 5
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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, Partners HealthCare 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 2020-10-30 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics 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.

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