ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.4125C>A (p.Arg1375=)

dbSNP: rs570983771
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252015 SCV000307502 likely benign not specified criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500880 SCV002801903 likely benign Primary ciliary dyskinesia 7 2021-07-21 criteria provided, single submitter clinical testing
Invitae RCV003650556 SCV004549724 likely benign Primary ciliary dyskinesia 2024-01-08 criteria provided, single submitter clinical testing

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