ClinVar Miner

Submissions for variant NM_018897.3(DNAH7):c.6492G>A (p.Met2164Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV003224828 SCV003920725 pathogenic Ciliary dyskinesia, primary, 50 2023-04-28 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003946468 SCV004767232 likely benign DNAH7-related disorder 2019-03-29 no assertion criteria provided 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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