ClinVar Miner

Submissions for variant NM_133444.3(ZNF526):c.1675G>A (p.Ala559Thr)

gnomAD frequency: 0.00010  dbSNP: rs200018551
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000504085 SCV000598093 uncertain significance not specified 2017-02-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000949421 SCV001095673 likely benign not provided 2018-05-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003935319 SCV004760633 likely benign ZNF526-related disorder 2020-01-21 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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