ClinVar Miner

Submissions for variant NM_001100913.3(PACS2):c.1381G>A (p.Asp461Asn)

dbSNP: rs2081012243
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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 RCV001196135 SCV001366639 uncertain significance Developmental and epileptic encephalopathy, 66 2019-04-25 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,PP3.
3billion RCV001196135 SCV005328567 likely benign Developmental and epileptic encephalopathy, 66 2024-09-20 criteria provided, single submitter clinical testing The variant was identified in at least one patient who was diagnosed with a different variant in another gene and showed no symptoms related to the gene containing the variant in question.

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