ClinVar Miner

Submissions for variant NM_153026.3(PRICKLE1):c.1899T>C (p.Phe633=) (rs3747563)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000118050 SCV000232795 benign not specified 2014-07-02 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712845 SCV000843383 benign not provided 2018-05-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715151 SCV000845979 benign Seizures 2016-01-08 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000118050 SCV000152378 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.

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