ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.1034A>C (p.Asn345Thr)

dbSNP: rs1057519938
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital RCV002051723 SCV001950190 pathogenic Megalencephaly-capillary malformation-polymicrogyria syndrome; Noonan syndrome 8 2021-09-30 criteria provided, single submitter clinical testing

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