ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.304+2T>A

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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 RCV004759647 SCV005368435 pathogenic Treacher Collins syndrome 1 2024-09-16 criteria provided, single submitter clinical testing Criteria applied: PVS1,PS2_MOD,PM2,PP4

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