ClinVar Miner

Submissions for variant NM_001206927.2(DNAH8):c.12583C>T (p.Leu4195=)

gnomAD frequency: 0.00034  dbSNP: rs200315521
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001453683 SCV001657379 likely benign Primary ciliary dyskinesia 2022-10-13 criteria provided, single submitter clinical testing

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