ClinVar Miner

Submissions for variant NM_002473.5(MYH9):c.2344G>A

dbSNP: rs139966058
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002221780 SCV002498976 uncertain significance not provided 2022-03-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV002221780 SCV003266910 benign not provided 2023-11-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533975 SCV004716027 likely benign MYH9-related disorder 2022-04-20 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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