ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4806C>T (p.Ile1602=)

gnomAD frequency: 0.00029  dbSNP: rs372240227
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000945995 SCV000523352 likely benign not provided 2019-11-25 criteria provided, single submitter clinical testing
Invitae RCV001079278 SCV001092074 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-11-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000945995 SCV001151705 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002339018 SCV002637792 likely benign Inborn genetic diseases 2017-09-20 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.

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