ClinVar Miner

Submissions for variant NM_001127221.1(CACNA1A):c.2742C>T (p.Pro914=) (rs16021)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000718677 SCV000849541 benign History of neurodevelopmental disorder 2016-06-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000116519 SCV000331731 benign not specified 2015-06-12 criteria provided, single submitter clinical testing
GeneDx RCV000116519 SCV000730989 benign not specified 2017-03-01 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 RCV000116519 SCV000150468 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.
Invitae RCV000556399 SCV000656730 benign Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 2018-01-05 criteria provided, single submitter clinical testing

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