ClinVar Miner

Submissions for variant NM_000080.3(CHRNE):c.1017C>G (p.Ser339=) (rs114454383)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116733 SCV000150707 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 RCV000277619 SCV000403876 likely benign Congenital Myasthenic Syndrome, Dominant/Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000537199 SCV000641231 benign Myasthenic syndrome, congenital, 4a, slow-channel 2017-12-20 criteria provided, single submitter clinical testing

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