ClinVar Miner

Submissions for variant NM_001394372.1(BICRA):c.1163del (p.Pro388fs)

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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 RCV004784870 SCV005397077 pathogenic Coffin-Siris syndrome 12 2024-10-09 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2

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