ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.13077G>A (p.Leu4359=)

gnomAD frequency: 0.00001  dbSNP: rs148805204
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000819912 SCV000960599 likely benign Primary ciliary dyskinesia 2024-04-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV000819912 SCV001458350 uncertain significance Primary ciliary dyskinesia 2020-03-10 no assertion criteria provided clinical testing

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