ClinVar Miner

Submissions for variant NM_001904.4(CTNNB1):c.2340C>T (p.Asp780=)

gnomAD frequency: 0.01246  dbSNP: rs2293303
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000116849 SCV000538750 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Invitae RCV001510964 SCV001718132 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001510964 SCV001843372 benign not provided 2018-07-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116849 SCV000150923 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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