ClinVar Miner

Submissions for variant NM_001904.4(CTNNB1):c.1516C>T (p.Leu506=)

gnomAD frequency: 0.02575  dbSNP: rs3856748
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000949681 SCV001095945 benign not provided 2025-02-04 criteria provided, single submitter clinical testing
GeneDx RCV000949681 SCV001851525 benign not provided 2018-07-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000949681 SCV005238827 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000116847 SCV000150921 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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