ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.6407C>T (p.Thr2136Met)

gnomAD frequency: 0.00009  dbSNP: rs140690090
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000545638 SCV000624278 benign Primary ciliary dyskinesia 2024-10-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481750 SCV002784452 uncertain significance Primary ciliary dyskinesia 3 2021-07-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV000545638 SCV002080897 uncertain significance Primary ciliary dyskinesia 2019-10-28 no assertion criteria provided clinical testing

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