ClinVar Miner

Submissions for variant NM_004171.4(SLC1A2):c.469A>G (p.Lys157Glu)

dbSNP: rs1851730752
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001200338 SCV001371270 uncertain significance not provided 2020-04-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003142125 SCV003823344 uncertain significance Developmental and epileptic encephalopathy, 41 2022-03-14 criteria provided, single submitter clinical testing

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