ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.11300G>A (p.Arg3767His)

gnomAD frequency: 0.00006  dbSNP: rs138838869
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 RCV000805249 SCV000945197 benign Primary ciliary dyskinesia 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000805249 SCV001462481 uncertain significance Primary ciliary dyskinesia 2020-01-12 no assertion criteria provided clinical testing

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