ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.809T>C (p.Val270Ala)

dbSNP: rs1755063375
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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 RCV001267028 SCV001445209 likely pathogenic Inborn genetic diseases 2018-07-18 criteria provided, single submitter clinical testing
Centogene AG - the Rare Disease Company RCV001810010 SCV002059246 uncertain significance Developmental and epileptic encephalopathy, 19 2018-05-03 criteria provided, single submitter clinical testing

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