ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6203G>A (p.Arg2068Gln)

gnomAD frequency: 0.00006  dbSNP: rs769040794
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000488982 SCV000577526 likely benign not provided 2020-06-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV000624453 SCV000742215 uncertain significance Inborn genetic diseases 2017-03-07 criteria provided, single submitter clinical testing
Invitae RCV001364368 SCV001560513 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-12-06 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV000488982 SCV003830276 uncertain significance not provided 2021-02-10 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000488982 SCV004565225 uncertain significance not provided 2023-11-03 criteria provided, single submitter clinical testing

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