ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.969G>A (p.Glu323=)

gnomAD frequency: 0.00003  dbSNP: rs77608123
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000554171 SCV000646971 likely benign Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV001707733 SCV001936117 benign not provided 2021-04-08 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224328 SCV003919996 likely benign Epilepsy, childhood absence, susceptibility to, 5; Developmental and epileptic encephalopathy, 43 2022-09-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF 0.03% (5/15272) (https://gnomad.broadinstitute.org/variant/15-26561043-C-T?dataset=gnomad_r3). This variant is present in ClinVar, with multiple labs classifying this variant as Benign or Likely benign (Variation ID:469577). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant suggests that this variant does not cause disease but requires further evidence. Therefore, this variant is classified as likely benign.

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