ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.7812-18C>G

gnomAD frequency: 0.00771  dbSNP: rs147865931
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242330 SCV000307580 benign not specified criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514259 SCV000611064 likely benign not provided 2017-04-27 criteria provided, single submitter clinical testing
GeneDx RCV000514259 SCV001786099 likely benign not provided 2019-05-24 criteria provided, single submitter clinical testing
Invitae RCV002058025 SCV002385130 benign Primary ciliary dyskinesia 2024-01-31 criteria provided, single submitter clinical testing

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