ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.6470G>A (p.Arg2157Gln)

gnomAD frequency: 0.00055  dbSNP: rs2480373
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001410399 SCV001612445 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001410399 SCV001866576 benign not provided 2021-04-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001410399 SCV002062852 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing CACNA1E: BS1
Genome-Nilou Lab RCV003458702 SCV004179692 likely benign Developmental and epileptic encephalopathy, 69 2023-04-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004038063 SCV004915920 likely benign Inborn genetic diseases 2022-10-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001410399 SCV002035017 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001410399 SCV002038443 uncertain significance not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003946077 SCV004765048 likely benign CACNA1E-related disorder 2022-07-19 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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