ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.11492C>G (p.Thr3831Ser)

gnomAD frequency: 0.00011  dbSNP: rs111313832
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 RCV001372102 SCV001568703 benign Primary ciliary dyskinesia 2023-11-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001372102 SCV002078432 uncertain significance Primary ciliary dyskinesia 2020-01-27 no assertion criteria provided clinical testing

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