ClinVar Miner

Submissions for variant NM_001206927.2(DNAH8):c.4908G>T (p.Glu1636Asp)

gnomAD frequency: 0.00440  dbSNP: rs61757219
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 RCV000230636 SCV000286339 benign Primary ciliary dyskinesia 2025-01-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500770 SCV002807743 likely benign Spermatogenic failure 46 2021-12-02 criteria provided, single submitter clinical testing

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