ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.4333_4336del (p.Leu1445fs)

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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 RCV003448537 SCV004175986 likely pathogenic KBG syndrome 2023-11-29 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2_SUP

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