ClinVar Miner

Submissions for variant NM_030957.4(ADAMTS10):c.1179G>C (p.Glu393Asp)

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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 RCV003307344 SCV004009539 likely pathogenic Weill-Marchesani syndrome 1 2023-06-29 criteria provided, single submitter clinical testing

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