ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.6919G>A (p.Val2307Ile) (rs74604638)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514710 SCV000610208 likely benign not provided 2017-08-28 criteria provided, single submitter clinical testing
Invitae RCV000458250 SCV000558019 benign Primary ciliary dyskinesia 2017-10-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000215053 SCV000269021 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Val2307Ile in exon 42 of DNAH5: This variant is not expected to have clinical si gnificance because it has been identified in 2.5% (111/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs74604638).
PreventionGenetics RCV000215053 SCV000307809 benign not specified criteria provided, single submitter clinical testing

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