ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.799-11C>T

gnomAD frequency: 0.00001  dbSNP: rs371868451
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pars Genome Lab RCV001527513 SCV001738562 benign Primary ciliary dyskinesia 3 2021-06-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002070340 SCV002414154 likely benign Primary ciliary dyskinesia 2023-10-26 criteria provided, single submitter clinical testing

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