ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.295_296dup (p.Ile100fs)

dbSNP: rs1558003446
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, 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.
OMIM RCV001777173 SCV002014586 pathogenic Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies 2021-11-10 no assertion criteria provided literature only

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