ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.12272T>C (p.Met4091Thr)

gnomAD frequency: 0.00010  dbSNP: rs142570731
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
Invitae RCV001345817 SCV001539962 likely benign Primary ciliary dyskinesia 2024-01-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001345817 SCV002078402 uncertain significance Primary ciliary dyskinesia 2020-11-17 no assertion criteria provided clinical testing

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