ClinVar Miner

Submissions for variant NM_016580.4(PCDH12):c.1972G>A (p.Val658Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002511227 SCV002820424 uncertain significance not provided 2022-07-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV003134441 SCV003812349 uncertain significance Diencephalic-mesencephalic junction dysplasia syndrome 1 2021-03-30 criteria provided, single submitter clinical testing

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