ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.6857G>A (p.Arg2286Gln)

gnomAD frequency: 0.00009  dbSNP: rs749565023
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001978021 SCV002258186 benign not provided 2024-12-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002573447 SCV003687805 likely benign Inborn genetic diseases 2022-10-27 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.
Genome-Nilou Lab RCV003458810 SCV004179709 likely benign Developmental and epileptic encephalopathy, 69 2023-04-11 criteria provided, single submitter clinical testing

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