ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.2869G>T (p.Glu957Ter) (rs1558010146)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratoire de Cytogenetique,Hospices Civils de Lyon RCV000754579 SCV000787762 pathogenic Polymicrogyria 2018-07-25 criteria provided, single submitter clinical testing Truncating homozygous variation in a gene for which knocked out mice presents highly similar phenotypic presentation.

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