ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.633T>C (p.Ser211=)

gnomAD frequency: 0.00005  dbSNP: rs202216404
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727523 SCV000709448 uncertain significance not provided 2017-06-16 criteria provided, single submitter clinical testing
GeneDx RCV000727523 SCV000728238 likely benign not provided 2019-07-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31719132)
Ambry Genetics RCV002311954 SCV000847142 likely benign Inborn genetic diseases 2016-07-26 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.
Invitae RCV001082686 SCV001046027 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-12-18 criteria provided, single submitter clinical testing

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