ClinVar Miner

Submissions for variant NM_003705.5(SLC25A12):c.1171+17C>G

gnomAD frequency: 0.00014  dbSNP: rs370591049
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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 RCV001196517 SCV001367125 benign Developmental and epileptic encephalopathy, 39 2018-10-25 criteria provided, single submitter clinical testing This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BS2.
Labcorp Genetics (formerly Invitae), Labcorp RCV002069280 SCV002336482 benign not provided 2023-10-22 criteria provided, single submitter clinical testing

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