ClinVar Miner

Submissions for variant NM_001127221.1(CACNA1A):c.6660T>C (p.His2220=) (rs16051)

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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 RCV000715019 SCV000845840 benign History of neurodevelopmental disorder 2016-01-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079479 SCV000111358 benign not specified 2018-03-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079479 SCV000150483 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 RCV000540374 SCV000656800 benign Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 2017-04-22 criteria provided, single submitter clinical testing
PreventionGenetics RCV000079479 SCV000306700 benign not specified criteria provided, single submitter clinical testing

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