ClinVar Miner

Submissions for variant NM_001127221.1(CACNA1A):c.2754G>C (p.Glu918Asp) (rs16022)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000116520 SCV000202323 benign not specified 2014-03-18 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000116520 SCV000306693 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000116520 SCV000518850 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 RCV000576583 SCV000677210 benign Episodic ataxia type 2; Familial hemiplegic migraine type 1 2017-04-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715027 SCV000845850 benign History of neurodevelopmental disorder 2016-03-16 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059296 SCV000090848 not provided not provided no assertion provided not provided
Genetic Services Laboratory, University of Chicago RCV000116520 SCV000150469 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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