ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.2253G>A (p.Ala751=)

dbSNP: rs777616535
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000543176 SCV000642172 likely benign Familial focal epilepsy with variable foci 2024-11-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001200453 SCV001371423 likely benign not provided 2020-06-01 criteria provided, single submitter clinical testing

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