ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.7800T>C (p.Asp2600=)

gnomAD frequency: 0.00005  dbSNP: rs774129338
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000366860 SCV000468154 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000366860 SCV001614168 likely benign Primary ciliary dyskinesia 2025-01-08 criteria provided, single submitter clinical testing

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