ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.2633+7A>G

gnomAD frequency: 0.00001  dbSNP: rs1169099672
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000997908 SCV001153672 likely benign not provided 2019-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001440860 SCV001643775 likely benign Familial focal epilepsy with variable foci 2022-09-27 criteria provided, single submitter clinical testing

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