ClinVar Miner

Submissions for variant NM_017934.7(PHIP):c.2040G>C (p.Glu680Asp)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002885634 SCV003242170 likely benign not provided 2024-06-17 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003130771 SCV003812846 uncertain significance PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 2021-09-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004545408 SCV004781055 likely benign PHIP-related disorder 2021-10-20 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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