ClinVar Miner

Submissions for variant NM_014112.5(TRPS1):c.3160del (p.Ser1054fs)

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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 RCV003326196 SCV004032247 pathogenic Trichorhinophalangeal syndrome, type III 2023-08-23 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2_SUP,PP4

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