ClinVar Miner

Submissions for variant NM_139057.4(ADAMTS17):c.1239G>C (p.Met413Ile)

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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 Molecular and Physiopathological Bases of Osteochondrodysplasia, Imagine Institute RCV003307346 SCV004009541 likely pathogenic Weill-Marchesani 4 syndrome, recessive 2023-06-29 criteria provided, single submitter clinical testing

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