ClinVar Miner

Submissions for variant NM_001904.4(CTNNB1):c.486C>T (p.Asp162=)

gnomAD frequency: 0.00122  dbSNP: rs5743392
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194238 SCV000247139 uncertain significance not specified 2014-11-26 criteria provided, single submitter clinical testing
Invitae RCV000968935 SCV001116419 benign not provided 2024-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000968935 SCV001834429 benign not provided 2019-02-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000968935 SCV002496805 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing CTNNB1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003955147 SCV004769778 benign CTNNB1-related condition 2019-04-10 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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