ClinVar Miner

Submissions for variant NM_015103.3(PLXND1):c.2467C>A (p.Pro823Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002289418 SCV002580960 uncertain significance Oromandibular-limb hypogenesis spectrum 2022-07-19 criteria provided, single submitter clinical testing

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