ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.4332G>A (p.Lys1444=)

gnomAD frequency: 0.00001  dbSNP: rs758755198
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598601 SCV000710502 uncertain significance not provided 2019-06-04 criteria provided, single submitter clinical testing In silico analysis, which includes splice predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000598601 SCV002931325 benign not provided 2022-11-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543394 SCV004782221 likely benign MYH9-related disorder 2020-12-15 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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