ClinVar Miner

Submissions for variant NM_198903.2(GABRG2):c.588C>T (p.Asn196=) (rs211037)

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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 RCV000715202 SCV000846030 benign Seizures 2016-01-11 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576645 SCV000677308 benign Familial febrile seizures 8 2017-04-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079320 SCV000111190 benign not specified 2013-07-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079320 SCV000151275 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 RCV000336371 SCV000456077 benign Severe myoclonic epilepsy in infancy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393381 SCV000456078 benign Generalized epilepsy with febrile seizures plus 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000079320 SCV000305554 benign not specified criteria provided, single submitter clinical testing

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