ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.441G>T (p.Arg147=) (rs190024862)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125163 SCV000168604 benign not specified 2013-10-21 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000488360 SCV000337043 uncertain significance not provided 2015-11-12 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000488360 SCV000575451 uncertain significance not provided 2017-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716991 SCV000847836 likely benign Seizures 2016-09-15 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV001085950 SCV001001763 likely benign Idiopathic generalized epilepsy; Epilepsy, juvenile myoclonic 5; Epilepsy, childhood absence 4 2020-10-20 criteria provided, single submitter clinical testing

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