ClinVar Miner

Submissions for variant NM_152268.4(PARS2):c.877C>G (p.Pro293Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur RCV005233256 SCV005880248 likely pathogenic Developmental and epileptic encephalopathy, 75 2024-02-27 criteria provided, single submitter clinical testing

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