ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser) (rs16027)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000079477 SCV000111356 benign not specified 2016-04-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079477 SCV000306696 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000079477 SCV000512442 benign not specified 2016-01-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000079477 SCV000841263 benign not specified 2017-08-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715026 SCV000845848 benign History of neurodevelopmental disorder 2016-03-02 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV001515781 SCV001723936 benign Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 2020-12-08 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059298 SCV000090850 not provided not provided no assertion provided not provided
Genetic Services Laboratory, University of Chicago RCV000079477 SCV000150474 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000079477 SCV001741373 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000079477 SCV001927064 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000079477 SCV001952003 benign not specified no assertion criteria provided clinical testing

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