ClinVar Miner

Submissions for variant NM_198903.2(GABRG2):c.354G>A (p.Ala118=) (rs61735412)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715598 SCV000846427 benign Seizures 2016-01-08 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117114 SCV000151274 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 RCV000284951 SCV000456073 likely benign Severe myoclonic epilepsy in infancy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000337770 SCV000456074 likely benign Generalized epilepsy with febrile seizures plus 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000232583 SCV000285627 benign Epilepsy, childhood absence 2; Familial febrile seizures 8 2017-12-20 criteria provided, single submitter clinical testing

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