ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.8885A>C (p.Lys2962Thr)

gnomAD frequency: 0.00048  dbSNP: rs199602894
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000545056 SCV000660307 likely benign Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001785664 SCV002027970 uncertain significance not provided 2022-12-15 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in ClinVar (ClinVar Variant ID# 478506; ClinVar)
PreventionGenetics, part of Exact Sciences RCV003962623 SCV004776721 likely benign DNAH1-related condition 2022-12-01 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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