ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.3345C>T (p.Ala1115=)

gnomAD frequency: 0.00063  dbSNP: rs370808102
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001837100 SCV002097477 likely benign not provided 2021-08-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002324213 SCV002606692 likely benign Cardiovascular phenotype 2020-01-15 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.
PreventionGenetics, part of Exact Sciences RCV003976230 SCV004795446 likely benign TNXB-related disorder 2020-03-19 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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