ClinVar Miner

Submissions for variant NM_198859.4(PRICKLE2):c.816T>C (p.Asp272=) (rs27673)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712854 SCV000843393 benign not provided 2018-05-03 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000616522 SCV000734290 benign Epilepsy, progressive myoclonic 5 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000118166 SCV000860870 benign not specified 2018-04-20 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118166 SCV000152518 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000616522 SCV000743806 benign Epilepsy, progressive myoclonic 5 2016-11-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323664 SCV000445895 benign Progressive myoclonic epilepsy 2016-06-14 criteria provided, single submitter clinical testing

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