ClinVar Miner

Submissions for variant NM_024665.7(TBL1XR1):c.669A>G (p.Pro223=)

gnomAD frequency: 0.00631  dbSNP: rs61750378
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001083104 SCV000645306 benign Pierpont syndrome 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000713774 SCV000844404 benign not provided 2017-09-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314996 SCV000847908 likely benign Inborn genetic diseases 2016-09-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV000713774 SCV001746783 benign not provided 2024-05-01 criteria provided, single submitter clinical testing TBL1XR1: BP4, BP7, BS1, BS2
GeneDx RCV000713774 SCV001833118 benign not provided 2018-11-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821555 SCV002070553 benign not specified 2019-09-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497152 SCV002804909 likely benign Pierpont syndrome; Intellectual disability, autosomal dominant 41 2022-05-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004553230 SCV004750682 benign TBL1XR1-related disorder 2024-02-27 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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