ClinVar Miner

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

gnomAD frequency: 0.32044  dbSNP: rs3747563
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000118050 SCV000232795 benign not specified 2014-07-02 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000712845 SCV000843383 benign not provided 2018-05-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000118050 SCV000845979 benign not specified 2016-01-08 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001517090 SCV001725504 benign Epilepsy, progressive myoclonic, 1B 2025-02-04 criteria provided, single submitter clinical testing
GeneDx RCV000712845 SCV001889555 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000712845 SCV005230533 benign not provided criteria provided, single submitter not provided
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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000118050 SCV001742837 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000118050 SCV001929121 benign not specified no assertion criteria provided clinical testing

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