ClinVar Miner

Submissions for variant NM_001127221.1(CACNA1A):c.2740C>T (p.Pro914Ser) (rs16020)

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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 RCV000718662 SCV000849526 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
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514339 SCV000610384 likely benign not provided 2017-05-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000116518 SCV000331730 benign not specified 2015-06-12 criteria provided, single submitter clinical testing
GeneDx RCV000116518 SCV000524679 benign not specified 2016-12-05 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.
Genetic Services Laboratory, University of Chicago RCV000116518 SCV000150467 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 RCV000544006 SCV000656729 benign Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 2018-01-05 criteria provided, single submitter clinical testing

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