ClinVar Miner

Submissions for variant NM_001287491.2(TET3):c.3000_3013del (p.Lys1003fs)

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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, University of Leipzig Medical Center RCV003885412 SCV004698078 likely pathogenic Beck-Fahrner syndrome 2024-02-21 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2_SUP

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