ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.536C>T (p.Thr179Met)

gnomAD frequency: 0.00002  dbSNP: rs747116308
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 RCV001317298 SCV001507954 likely benign Primary ciliary dyskinesia 2024-04-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001317298 SCV002081823 uncertain significance Primary ciliary dyskinesia 2020-02-26 no assertion criteria provided clinical testing

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