ClinVar Miner

Submissions for variant NM_005710.2(PQBP1):c.180-3C>T (rs741932)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081326 SCV000113246 benign not specified 2014-05-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000407634 SCV000482510 benign Renpenning syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712843 SCV000843380 benign not provided 2018-05-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715350 SCV000846179 benign History of neurodevelopmental disorder 2016-03-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081326 SCV000152376 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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