ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.5776G>A (p.Glu1926Lys)

gnomAD frequency: 0.00005  dbSNP: rs771222700
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 RCV000806928 SCV000946950 benign Primary ciliary dyskinesia 2023-03-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV000806928 SCV002080913 uncertain significance Primary ciliary dyskinesia 2021-03-09 no assertion criteria provided clinical testing

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