ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.3124A>G (p.Met1042Val)

gnomAD frequency: 0.00006  dbSNP: rs570189573
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002111144 SCV002384116 likely benign not provided 2024-12-02 criteria provided, single submitter clinical testing
GeneDx RCV002111144 SCV002496319 likely benign not provided 2021-04-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV003015235 SCV003685258 likely benign Inborn genetic diseases 2022-03-14 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 RCV003458829 SCV004179628 likely benign Developmental and epileptic encephalopathy, 69 2023-04-11 criteria provided, single submitter clinical testing

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