ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.2518_2529del (p.Leu840_Glu843del)

gnomAD frequency: 0.00003  dbSNP: rs1327484784
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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 RCV002139849 SCV002450485 likely benign not provided 2024-11-25 criteria provided, single submitter clinical testing
Institute of Human Genetics, University Hospital Muenster RCV003232553 SCV003929482 uncertain significance See cases 2023-03-01 criteria provided, single submitter clinical testing ACMG categories: PM2,PM4,BP6

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