ClinVar Miner

Submissions for variant NM_005465.7(AKT3):c.548T>A (p.Val183Asp)

dbSNP: rs886041100
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
TIDEX, University of British Columbia RCV000258932 SCV000586834 likely pathogenic Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 criteria provided, single submitter research
GeneReviews RCV000258932 SCV000328923 not provided Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 no assertion provided literature only

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