ClinVar Miner

Submissions for variant NM_001127221.1(CACNA1A):c.2094G>A (p.Thr698=) (rs16016)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715032 SCV000845855 benign History of neurodevelopmental disorder 2016-02-09 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576307 SCV000677209 benign Episodic ataxia type 2; Familial hemiplegic migraine type 1 2017-04-30 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710936 SCV000841248 benign not provided 2017-04-30 criteria provided, single submitter clinical testing
GeneDx RCV000116516 SCV000519200 benign not specified 2016-01-08 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.
Genetic Services Laboratory, University of Chicago RCV000116516 SCV000150465 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.
PreventionGenetics RCV000116516 SCV000306691 benign not specified criteria provided, single submitter clinical testing

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