ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.6444+8A>G (rs1348690)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000219553 SCV000269019 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 6444+8A>G in intron 38 of DNAH5: This variant is not expected to have clinical s ignificance because it is not located within the conserved splice consensus sequ ence. It has been identified in 9.2% (404/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.was hington.edu/EVS; dbSNP rs1348690).
PreventionGenetics,PreventionGenetics RCV000219553 SCV000307802 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000665897 SCV000453104 benign Ciliary dyskinesia, primary, 3 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000399749 SCV000558043 benign Primary ciliary dyskinesia 2020-12-07 criteria provided, single submitter clinical testing
Counsyl RCV000665897 SCV000790095 benign Ciliary dyskinesia, primary, 3 2017-03-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV000399749 SCV001457352 benign Primary ciliary dyskinesia 2020-09-16 no assertion criteria provided clinical testing

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