ClinVar Miner

Submissions for variant NM_001348800.3(ZBTB20):c.1838G>T (p.Arg613Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002289089 SCV002581527 likely pathogenic Primrose syndrome 2022-06-21 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV002289089 SCV005417215 likely pathogenic Primrose syndrome criteria provided, single submitter clinical testing PM2_Supporting+PP3+PP2+PS2_Moderate+PP4

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