ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6663G>C (p.Pro2221=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002366917 SCV002663858 likely benign Inborn genetic diseases 2019-11-16 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.
CeGaT Center for Human Genetics Tuebingen RCV002511163 SCV002822521 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing CACNA1A: BP4, BP7

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