ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.7197G>C (p.Val2399=)

gnomAD frequency: 0.01427  dbSNP: rs61738522
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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 RCV000547843 SCV000660290 benign Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2025-02-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002227181 SCV002506061 benign not provided 2024-09-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002227181 SCV005303693 benign not provided criteria provided, single submitter not provided

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