ClinVar Miner

Submissions for variant NM_022095.4(ZNF335):c.1418G>A (p.Arg473His)

gnomAD frequency: 0.00145  dbSNP: rs137901051
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001546020 SCV001765462 uncertain significance not provided 2019-10-16 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001546020 SCV002344015 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003966169 SCV004778057 likely benign ZNF335-related disorder 2022-10-19 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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