ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.2048G>A (p.Arg683His)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002951810 SCV003684360 likely benign Inborn genetic diseases 2022-01-26 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.
Revvity Omics, Revvity RCV003143556 SCV003828810 uncertain significance not provided 2021-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003143556 SCV004140845 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing CACNA1G: BS1
Labcorp Genetics (formerly Invitae), Labcorp RCV003143556 SCV004277287 benign not provided 2023-02-22 criteria provided, single submitter clinical testing

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