ClinVar Miner

Submissions for variant NM_181675.4(PPP2R2B):c.328A>G (p.Thr110Ala)

dbSNP: rs1064796487
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484495 SCV000573260 uncertain significance not provided 2019-06-25 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
GenomeConnect, ClinGen RCV001249300 SCV001423258 not provided PPP2R2B-related disorder no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 02-17-2017 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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