ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2907G>A (p.Pro969=)

gnomAD frequency: 0.00016  dbSNP: rs772557121
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538768 SCV000656737 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-10-22 criteria provided, single submitter clinical testing
GeneDx RCV001722522 SCV000721963 likely benign not provided 2021-06-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002438487 SCV002750963 likely benign Inborn genetic diseases 2019-10-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV001722522 SCV004138009 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing CACNA1A: BP4, BP7

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