ClinVar Miner

Submissions for variant NM_198859.4(PRICKLE2):c.259-6A>G (rs2306380)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712850 SCV000843389 benign not provided 2018-05-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118059 SCV000152388 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 RCV000294317 SCV000445900 benign Progressive myoclonic epilepsy 2016-06-14 criteria provided, single submitter clinical testing

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