ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.2980G>A (p.Gly994Arg)

gnomAD frequency: 0.00008  dbSNP: rs148719824
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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 RCV002122434 SCV002400598 likely benign not provided 2024-11-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV003007127 SCV003680109 likely benign Inborn genetic diseases 2022-06-09 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 RCV003458832 SCV004179620 likely benign Developmental and epileptic encephalopathy, 69 2023-04-11 criteria provided, single submitter clinical testing

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