ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.6075C>G (p.Tyr2025Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV004764811 SCV005374555 pathogenic KBG syndrome 2024-10-14 criteria provided, single submitter clinical testing This variant has been identified by standard clinical testing. Selected ACMG criteria: Pathogenic (I):PM2;PS2;PVS1

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