ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.6605G>A (p.Ser2202Asn)

dbSNP: rs1662014050
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197519 SCV001368297 uncertain significance Developmental and epileptic encephalopathy, 69 2019-03-26 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,BP4.
Labcorp Genetics (formerly Invitae), Labcorp RCV002069284 SCV002401496 benign not provided 2022-02-05 criteria provided, single submitter clinical testing

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