ClinVar Miner

Submissions for variant NM_153033.4(KCTD7):c.267G>A (p.Thr89=) (rs3764904)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715165 SCV000845993 benign Seizures 2016-02-25 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000117376 SCV000703408 benign not specified 2016-11-07 criteria provided, single submitter clinical testing
GeneDx RCV000117376 SCV000170009 benign not specified 2013-12-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000117376 SCV000151559 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 RCV000263469 SCV000469804 likely benign Progressive myoclonic epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675797 SCV000801518 benign not provided 2015-12-16 no assertion criteria provided clinical testing
PreventionGenetics RCV000117376 SCV000316250 benign not specified criteria provided, single submitter clinical testing

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