ClinVar Miner

Submissions for variant NM_014112.5(TRPS1):c.2096+1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV002287283 SCV002577531 likely pathogenic Trichorhinophalangeal dysplasia type I 2022-01-31 criteria provided, single submitter clinical testing PVS1, PM2

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