ClinVar Miner

Submissions for variant NM_002715.4(PPP2CA):c.822A>C (p.Ala274=)

gnomAD frequency: 0.00001  dbSNP: rs756668978
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002155448 SCV002418451 likely benign not provided 2023-12-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002155448 SCV002563858 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing PPP2CA: BP4, BP7

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