ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.7704T>C (p.Val2568=)

gnomAD frequency: 0.00243  dbSNP: rs370919547
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001548668 SCV001768621 likely benign not provided 2020-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002405233 SCV002673227 benign Cardiovascular phenotype 2019-03-29 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 RCV002495878 SCV002802280 benign Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8 2021-09-01 criteria provided, single submitter clinical testing

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