ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.4282A>G (p.Thr1428Ala)

gnomAD frequency: 0.00235  dbSNP: rs72657315
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234030 SCV000287004 benign Primary ciliary dyskinesia 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000251138 SCV000307510 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001658056 SCV001873414 benign not provided 2020-07-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500775 SCV002808554 benign Primary ciliary dyskinesia 7 2022-04-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001658056 SCV004163789 benign not provided 2024-02-01 criteria provided, single submitter clinical testing DNAH11: BP4, BS1, BS2

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