ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.293_294TC[3] (p.Ile100fs) (rs1558003446)

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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 RCV000754580 SCV000787761 pathogenic Polymicrogyria 2018-07-25 criteria provided, single submitter clinical testing Homozygous truncating variation segregating in a family with two affected patients presenting important phenotypic overlap with mouse model.

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