ClinVar Miner

Submissions for variant NM_001206927.2(DNAH8):c.7471A>G (p.Ile2491Val)

gnomAD frequency: 0.00101  dbSNP: rs148698911
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000629642 SCV000750597 likely benign Primary ciliary dyskinesia 2024-12-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499029 SCV002795605 likely benign Spermatogenic failure 46 2022-01-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705725 SCV005223737 likely benign not provided criteria provided, single submitter not provided

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