ClinVar Miner

Submissions for variant NM_004473.4(FOXE1):c.285A>G (p.Lys95=)

gnomAD frequency: 0.00274  dbSNP: rs139551528
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500330 SCV000594855 likely benign not specified 2016-11-07 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625264 SCV000744357 likely benign Bamforth-Lazarus syndrome 2017-06-28 criteria provided, single submitter clinical testing
Invitae RCV000954698 SCV001101347 benign not provided 2017-11-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000954698 SCV004699299 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing FOXE1: BP4, BP7, BS2
Clinical Genetics, Academic Medical Center RCV000500330 SCV001921272 benign not specified no assertion criteria provided clinical testing

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