ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.914G>A (p.Gly305Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV002286491 SCV002576457 likely pathogenic Seizures, benign familial infantile, 2 2022-09-07 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PM5_STR, PM1, PS4_SUP, PM2_SUP, PP3

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