ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.5176G>A (p.Glu1726Lys)

gnomAD frequency: 0.00004  dbSNP: rs373580829
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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 RCV000550526 SCV000624135 benign Primary ciliary dyskinesia 2024-11-05 criteria provided, single submitter clinical testing

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