ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.11398G>C (p.Asp3800His)

gnomAD frequency: 0.00001  dbSNP: rs553943791
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 RCV001054508 SCV001218826 benign Primary ciliary dyskinesia 2023-12-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489636 SCV002782246 uncertain significance Primary ciliary dyskinesia 7 2021-12-23 criteria provided, single submitter clinical testing

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