ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.12151A>G (p.Met4051Val)

gnomAD frequency: 0.00002  dbSNP: rs138162689
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 RCV000808223 SCV000948319 likely benign Primary ciliary dyskinesia 2024-02-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV000808223 SCV001462293 uncertain significance Primary ciliary dyskinesia 2020-09-16 no assertion criteria provided clinical testing

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