ClinVar Miner

Submissions for variant NM_005097.4(LGI1):c.1442del (p.Pro481fs)

dbSNP: rs2134026964
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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 Medical Genetics and Applied Genomics, University Hospital Tübingen RCV002077370 SCV002320765 pathogenic Genitopatellar syndrome; Epilepsy, familial temporal lobe, 1 2022-04-04 criteria provided, single submitter clinical testing

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