ClinVar Miner

Submissions for variant NM_020708.5(SLC12A5):c.1689-7G>A

dbSNP: rs2084595386
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197707 SCV001368486 uncertain significance Developmental and epileptic encephalopathy, 34 2020-04-02 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2.
Labcorp Genetics (formerly Invitae), Labcorp RCV001197707 SCV002362092 likely benign Developmental and epileptic encephalopathy, 34 2024-02-05 criteria provided, single submitter clinical testing

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