ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.113G>A (p.Arg38Gln)

gnomAD frequency: 0.00876  dbSNP: rs149502087
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001586742 SCV001820599 likely benign not provided 2023-09-13 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276826 SCV002566187 likely benign Ehlers-Danlos syndrome 2020-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002458548 SCV002614567 benign Cardiovascular phenotype 2019-03-22 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 RCV002501953 SCV002798057 likely benign Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8 2022-02-07 criteria provided, single submitter clinical testing

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