ClinVar Miner

Submissions for variant NM_198904.4(GABRG2):c.108-1G>T

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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 RCV004759515 SCV005368107 uncertain significance Febrile seizures, familial, 8 2024-04-22 criteria provided, single submitter clinical testing Criteria applied: PVS1_MOD,PM2_SUP

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