ClinVar Miner

Submissions for variant NM_153026.3(PRICKLE1):c.1902T>C (p.Ser634=) (rs3747562)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000082658 SCV000114700 benign not specified 2014-07-02 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712846 SCV000843384 benign not provided 2018-05-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715167 SCV000845995 benign Seizures 2016-01-08 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001517089 SCV001725503 benign Progressive myoclonus epilepsy with ataxia 2020-12-05 criteria provided, single submitter clinical testing
GeneDx RCV000712846 SCV001945610 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082658 SCV000152379 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000082658 SCV001743900 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000082658 SCV001927570 benign not specified no assertion criteria provided clinical testing

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