ClinVar Miner

Submissions for variant NM_005097.4(LGI1):c.744G>A (p.Glu248=)

gnomAD frequency: 0.00004  dbSNP: rs199916185
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126620 SCV000170127 benign not specified 2013-04-09 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.
Invitae RCV002228298 SCV001006559 likely benign Autosomal dominant epilepsy with auditory features 2024-01-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001701680 SCV003916625 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing LGI1: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701680 SCV001928559 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001701680 SCV001973211 likely benign not provided no assertion criteria provided clinical testing

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