ClinVar Miner

Submissions for variant NM_001904.4(CTNNB1):c.2320C>T (p.Leu774=)

gnomAD frequency: 0.00390  dbSNP: rs4135386
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV000958295 SCV005238830 benign not provided criteria provided, single submitter not provided
Fulgent Genetics, Fulgent Genetics RCV002492876 SCV002796806 likely benign Medulloblastoma; Pilomatrixoma; Ovarian neoplasm; Severe intellectual disability-progressive spastic diplegia syndrome; Hepatocellular carcinoma; Colorectal cancer; Exudative vitreoretinopathy 7 2021-10-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000958295 SCV002563762 likely benign not provided 2025-06-01 criteria provided, single submitter clinical testing CTNNB1: BP4, BP7, BS2
GeneDx RCV000958295 SCV001846465 benign not provided 2018-09-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000958295 SCV001105129 benign not provided 2025-01-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000193388 SCV000247138 benign not specified 2015-11-10 criteria provided, single submitter clinical testing

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