ClinVar Miner

Submissions for variant NM_005909.5(MAP1B):c.3316C>T (p.Arg1106Ter)

dbSNP: rs1554055106
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001195716 SCV001368568 uncertain significance Periventricular nodular heterotopia 9 2020-03-24 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence favors the pathogenic nature of this variant, however the currently available data is insufficient to conclusively support its pathogenic nature. Thus this variant is classified as Uncertain significance - favor pathogenic. The following ACMG criteria were applied in classifying this variant: PM2.
Epi4K Consortium RCV000662229 SCV000784586 likely pathogenic Periventricular nodular heterotopia 2018-01-01 no assertion criteria provided research
OMIM RCV001195716 SCV001366128 pathogenic Periventricular nodular heterotopia 9 2020-07-01 no assertion criteria provided literature only

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