ClinVar Miner

Submissions for variant NM_001206927.2(DNAH8):c.13823C>T (p.Thr4608Met)

gnomAD frequency: 0.00168  dbSNP: rs142438011
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457038 SCV000558125 likely benign Primary ciliary dyskinesia 2024-01-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496818 SCV002804411 likely benign Spermatogenic failure 46 2021-12-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002496818 SCV003831750 uncertain significance Spermatogenic failure 46 2021-11-05 criteria provided, single submitter clinical testing

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