ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.12250C>G (p.Leu4084Val)

gnomAD frequency: 0.00001  dbSNP: rs878854437
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000230211 SCV000286977 likely benign Primary ciliary dyskinesia 2024-10-22 criteria provided, single submitter clinical testing

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