ClinVar Miner

Submissions for variant NM_007118.4(TRIO):c.7050del (p.Val2351fs)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002288351 SCV002580570 likely pathogenic Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 2022-04-19 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003134423 SCV003810144 likely pathogenic not provided 2022-02-15 criteria provided, single submitter clinical testing
GeneDx RCV003134423 SCV005079294 pathogenic not provided 2023-11-30 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 32109419)

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