ClinVar Miner

Submissions for variant NM_002715.4(PPP2CA):c.678G>A (p.Glu226=)

gnomAD frequency: 0.00001  dbSNP: rs139617743
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002183404 SCV002424267 likely benign not provided 2024-09-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002183404 SCV004161396 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing PPP2CA: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV002183404 SCV005224767 likely benign not provided criteria provided, single submitter not provided

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