ClinVar Miner

Submissions for variant NM_002715.4(PPP2CA):c.794A>G (p.Tyr265Cys)

dbSNP: rs1561733474
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000760302 SCV000996433 likely pathogenic Neurodevelopmental disorder and language delay with or without structural brain abnormalities 2019-07-15 criteria provided, single submitter curation This variant is interpreted as a Likely pathogenic for Neurodevelopmental disorder and language delay with or without structural brain abnormalities, autosomal dominant. The following ACMG Tag(s) were applied: PM2, PM6, PP3, PS3.
OMIM RCV000760302 SCV000890152 pathogenic Neurodevelopmental disorder and language delay with or without structural brain abnormalities 2023-11-10 no assertion criteria provided literature only

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