ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.7802C>T (p.Pro2601Leu)

gnomAD frequency: 0.00053  dbSNP: rs575866552
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001561078 SCV001783610 likely benign not provided 2019-07-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30115950)
Ambry Genetics RCV002414267 SCV002673308 benign Cardiovascular phenotype 2023-11-03 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 RCV002495895 SCV002801236 likely benign Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8 2022-05-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001561078 SCV004156243 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing TNXB: BP4, BS2

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