ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.6989-13T>C (rs112344370)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155507 SCV000205206 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 6989-13T>C in intron 42 of DNAH5: This variant is not expected to have clinical significance because it has been identified in 4.8% (211/4406) of African Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs112344370).
PreventionGenetics,PreventionGenetics RCV000155507 SCV000307810 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001152112 SCV001313319 benign Ciliary dyskinesia, primary, 3 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

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