ClinVar Miner

Submissions for variant NM_173628.4(DNAH17):c.12854G>A (p.Arg4285Gln)

gnomAD frequency: 0.01936  dbSNP: rs35973257
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000454977 SCV000538912 likely benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Axonemal dynein, but frequency is high
Breakthrough Genomics, Breakthrough Genomics RCV004705583 SCV005214186 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003912789 SCV004729053 benign DNAH17-related disorder 2020-01-24 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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