ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.12468A>C (p.Gly4156=) (rs30169)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155502 SCV000205200 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Gly4156Gly in exon 72 of DNAH5: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 42.4% (3649/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequ encing Project (http://evs.gs.washington.edu/EVS; dbSNP rs30169).
PreventionGenetics,PreventionGenetics RCV000155502 SCV000307693 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001094956 SCV000452963 benign Ciliary dyskinesia, primary, 3 2018-01-13 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000358362 SCV001000004 benign Primary ciliary dyskinesia 2020-12-05 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001094956 SCV001738554 benign Ciliary dyskinesia, primary, 3 2021-06-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV000358362 SCV001462289 benign Primary ciliary dyskinesia 2020-09-16 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000155502 SCV001744444 benign not specified no assertion criteria provided clinical testing

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