ClinVar Miner

Submissions for variant NM_017934.7(PHIP):c.414T>A (p.Val138=)

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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 RCV002620918 SCV003511761 likely benign not provided 2025-01-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002620918 SCV004701045 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing PHIP: BP4
PreventionGenetics, part of Exact Sciences RCV004538827 SCV004712529 likely benign PHIP-related disorder 2023-01-19 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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