ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1454_1455del (p.Pro485fs)

dbSNP: rs2144676461
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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 RCV001785391 SCV002026421 likely pathogenic Pitt-Hopkins syndrome 2021-10-19 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PVS1, PM2_SUP

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