ClinVar Miner

Submissions for variant NM_198859.4(PRICKLE2):c.1551G>A (p.Gln517=) (rs116353694)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118058 SCV000152387 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.
Illumina Clinical Services Laboratory,Illumina RCV000271916 SCV000445891 likely benign Progressive myoclonic epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000548384 SCV000659546 benign Epilepsy, progressive myoclonic 5 2017-12-26 criteria provided, single submitter clinical testing

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