ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.5115-4G>T (rs141141086)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000214168 SCV000269015 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 5115-4G>T in intron 31 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 1.9% (83/4406) of African American chromosomes f rom a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.wash ington.edu/EVS; dbSNP rs141141086).
PreventionGenetics,PreventionGenetics RCV000214168 SCV000307781 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000464612 SCV000558023 benign Primary ciliary dyskinesia 2020-12-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001152322 SCV001313534 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Natera, Inc. RCV000464612 SCV001457370 benign Primary ciliary dyskinesia 2020-09-16 no assertion criteria provided clinical testing

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