ClinVar Miner

Submissions for variant NM_017934.7(PHIP):c.2854C>T (p.Arg952Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002269353 SCV002553040 uncertain significance not provided 2022-01-20 criteria provided, single submitter clinical testing Nonsense 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; Identified in a patient with a neurodevelopmental disorder in the published literature, however, familial segregation information and additional clinical information was not included (Wang et al., 2020); This variant is associated with the following publications: (PMID: 33004838)
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001257009 SCV001433565 likely pathogenic Rare genetic intellectual disability no assertion criteria provided clinical testing

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