ClinVar Miner

Submissions for variant NM_198904.4(GABRG2):c.853C>G (p.Leu285Val)

dbSNP: rs1554100507
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623065 SCV000742768 uncertain significance Inborn genetic diseases 2017-07-28 criteria provided, single submitter clinical testing
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV003128666 SCV003804997 likely pathogenic Developmental and epileptic encephalopathy, 74 criteria provided, single submitter clinical testing

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