ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.7413T>C (p.Pro2471=)

gnomAD frequency: 0.00016  dbSNP: rs375764263
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001549973 SCV001770220 likely benign not provided 2021-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002386449 SCV002671621 benign Cardiovascular phenotype 2019-06-27 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.
Fulgent Genetics, Fulgent Genetics RCV002488369 SCV002803059 likely benign Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8 2021-07-19 criteria provided, single submitter clinical testing

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