ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.6374A>G (p.Asp2125Gly)

gnomAD frequency: 0.00001  dbSNP: rs575139970
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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 RCV000699061 SCV000827756 benign Primary ciliary dyskinesia 2024-02-11 criteria provided, single submitter clinical testing

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