ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.1015A>G (p.Lys339Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cytoplasmic Inheritance Laboratory,Institute of Genetics and Cytology RCV001293028 SCV001481801 pathogenic Epileptic encephalopathy, early infantile, 19 2020-11-19 no assertion criteria provided clinical testing We consider the variant NM_001127643.2:c.1015A>G as disease-causing; it results in an amino acid substitution.

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