ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.7609+19C>T

gnomAD frequency: 0.37414  dbSNP: rs35732567
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178569 SCV000230678 benign not specified 2016-03-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000178569 SCV000307817 benign not specified criteria provided, single submitter clinical testing
Pars Genome Lab RCV001527531 SCV001738604 benign Primary ciliary dyskinesia 3 2021-06-15 criteria provided, single submitter clinical testing
GeneDx RCV001689717 SCV001910724 benign not provided 2018-11-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054118 SCV002402802 benign Primary ciliary dyskinesia 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001689717 SCV005306012 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000178569 SCV001742955 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000178569 SCV001967892 benign not specified no assertion criteria provided clinical testing

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