ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.835C>G (p.Pro279Ala)

dbSNP: rs2543336371
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001004750 SCV001164229 likely pathogenic Seizures, benign familial infantile, 2 2018-12-20 criteria provided, single submitter clinical testing

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