ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val) (rs16023)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000116521 SCV000202322 benign not specified 2014-03-18 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000116521 SCV000306694 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000116521 SCV000518851 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 RCV000116521 SCV000841255 benign not specified 2017-04-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715033 SCV000845856 benign History of neurodevelopmental disorder 2016-03-11 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV001515628 SCV001723740 benign Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 2020-12-08 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059297 SCV000090849 not provided not provided no assertion provided not provided
Genetic Services Laboratory, University of Chicago RCV000116521 SCV000150470 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.

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