ClinVar Miner

Submissions for variant NM_001904.4(CTNNB1):c.1155C>A (p.Leu385=)

gnomAD frequency: 0.00041  dbSNP: rs74692094
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000906129 SCV001050752 benign not provided 2025-01-13 criteria provided, single submitter clinical testing
GeneDx RCV000906129 SCV001866452 benign not provided 2020-03-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487976 SCV002800631 likely benign Medulloblastoma; Pilomatrixoma; Ovarian neoplasm; Severe intellectual disability-progressive spastic diplegia syndrome; Hepatocellular carcinoma; Colorectal cancer; Exudative vitreoretinopathy 7 2022-02-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000906129 SCV004154262 benign not provided 2022-10-01 criteria provided, single submitter clinical testing CTNNB1: BS1, BS2
Genetic Services Laboratory, University of Chicago RCV003151206 SCV003839407 benign not specified 2022-09-21 no assertion criteria provided clinical testing

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