ClinVar Miner

Submissions for variant NM_024665.7(TBL1XR1):c.1424C>T (p.Ala475Val)

gnomAD frequency: 0.00005  dbSNP: rs753533374
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000515118 SCV000610476 uncertain significance not provided 2017-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316462 SCV000851119 benign Inborn genetic diseases 2020-03-31 criteria provided, single submitter clinical testing This alteration is classified as 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001078532 SCV001091522 likely benign Pierpont syndrome 2023-12-09 criteria provided, single submitter clinical testing
GeneDx RCV000515118 SCV001915118 benign not provided 2020-01-30 criteria provided, single submitter clinical testing

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