ClinVar Miner

Submissions for variant NM_173628.4(DNAH17):c.4500G>A (p.Glu1500=)

gnomAD frequency: 0.24140  dbSNP: rs626439
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Total submissions: 4
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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 RCV000454802 SCV000538900 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: Frequency
GeneDx RCV001725182 SCV001960392 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001725182 SCV005255128 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003972678 SCV004797297 benign DNAH17-related disorder 2019-10-17 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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