ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.4152del (p.Phe1384fs)

dbSNP: rs1339126434
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn RCV001263494 SCV001441577 likely pathogenic Epilepsy, familial focal, with variable foci 1 criteria provided, single submitter clinical testing ACMG classification: likely pathogenic (class 4: PVS1, PM2)
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV001263494 SCV002757830 likely pathogenic Epilepsy, familial focal, with variable foci 1 2020-10-15 criteria provided, single submitter clinical testing

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