ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.338C>A (p.Ala113Glu)

gnomAD frequency: 0.00011  dbSNP: rs772913999
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232706 SCV000286998 likely benign Primary ciliary dyskinesia 2024-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503903 SCV002814582 uncertain significance Primary ciliary dyskinesia 7 2021-08-18 criteria provided, single submitter clinical testing

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