ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.239T>G (p.Met80Arg) (rs1064794797)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals RCV000677391 SCV000803685 likely pathogenic Epileptic encephalopathy, early infantile, 43 2017-08-31 no assertion criteria provided clinical testing

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