ClinVar Miner

Submissions for variant NM_030957.4(ADAMTS10):c.3083T>G (p.Val1028Gly)

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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 RCV003307359 SCV004009558 likely pathogenic Weill-Marchesani syndrome 1 2023-06-29 criteria provided, single submitter clinical testing

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