ClinVar Miner

Submissions for variant NM_020361.5(CPA6):c.518C>G (p.Ser173Cys) (rs17853192)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000116826 SCV000231159 benign not specified 2015-01-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116826 SCV000150900 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 RCV000405335 SCV000474750 likely benign Temporal epilepsy, familial 2016-06-14 criteria provided, single submitter clinical testing

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