ClinVar Miner

Submissions for variant NM_001011658.4(TRAPPC2):c.137_138del (p.Leu46fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Instituto de Genética, Servicios Medicos Yunis Turbay Cia. SAS RCV002465374 SCV002600213 pathogenic Spondyloepiphyseal dysplasia tarda, X-linked 2022-11-12 criteria provided, single submitter clinical testing Variant detected in three affected males, detected also in an obligated carrier female. Variant not found in male children of affected individual.

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