ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.931G>A (p.Asp311Asn)

gnomAD frequency: 0.01502  dbSNP: rs55931436
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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 RCV000546451 SCV000660310 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 RCV002227182 SCV002506060 benign not provided 2024-09-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002227182 SCV005302574 benign not provided criteria provided, single submitter not provided

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