ClinVar Miner

Submissions for variant NM_014112.5(TRPS1):c.1505del (p.Ser502fs)

dbSNP: rs2130492512
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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 Medical Genetics and Applied Genomics, University Hospital Tübingen RCV002074479 SCV002320766 pathogenic Trichorhinophalangeal syndrome, type III; Trichorhinophalangeal dysplasia type I 2022-04-04 criteria provided, single submitter clinical testing

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