ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.-96T>G

gnomAD frequency: 0.00013  dbSNP: rs576862555
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001571032 SCV001795426 likely benign not provided 2020-04-02 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
Genetic Services Laboratory, University of Chicago RCV001821902 SCV002066314 uncertain significance not specified 2018-08-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001571032 SCV004033228 benign not provided 2023-07-01 criteria provided, single submitter clinical testing HNF1A: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003956263 SCV004773530 likely benign HNF1A-related disorder 2020-02-26 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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