ClinVar Miner

Submissions for variant NM_001104631.2(PDE4D):c.456-214326G>A

gnomAD frequency: 0.00136  dbSNP: rs181294274
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002263377 SCV002544943 benign not provided 2023-03-01 criteria provided, single submitter clinical testing PDE4D: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV004749891 SCV005354552 likely benign PDE4D-related disorder 2024-03-12 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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