ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.9364T>C (p.Ser3122Pro)

gnomAD frequency: 0.00001  dbSNP: rs1484104041
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003539179 SCV004344876 benign Primary ciliary dyskinesia 2023-02-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004540715 SCV004788929 uncertain significance DNAH11-related disorder 2024-01-09 no assertion criteria provided clinical testing The DNAH11 c.9364T>C variant is predicted to result in the amino acid substitution p.Ser3122Pro. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0057% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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