ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.2816A>G (p.Asp939Gly)

dbSNP: rs2108424902
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli RCV001420201 SCV001622621 likely pathogenic See cases 2021-04-26 criteria provided, single submitter clinical testing PM1_moderate;PM2_supporting;PM6_moderate;PP2_supporting;PP3_supporting
Institute of Medical and Molecular Genetics, Hospital Universitario La Paz RCV001706733 SCV001934199 likely pathogenic Segmental undergrowth associated with mainly venous malformation with capillary component 2021-04-06 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV002464456 SCV002759323 pathogenic Megalencephaly-capillary malformation-polymicrogyria syndrome 2022-12-07 criteria provided, single submitter clinical testing
Medical Genetics Laboratory, Aldo Moro University of Bari RCV001526502 SCV001736925 pathogenic Angioosteohypertrophic syndrome 2021-06-06 no assertion criteria provided clinical testing

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