ClinVar Miner

Submissions for variant NM_000193.4(SHH):c.37del (p.Val13fs)

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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 RCV004759501 SCV005368079 pathogenic Solitary median maxillary central incisor syndrome 2025-03-04 criteria provided, single submitter clinical testing Criteria applied: PVS1,PS2_MOD,PM2

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