ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.5442C>G (p.Asp1814Glu)

dbSNP: rs181025235
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001608705 SCV001833083 benign not provided 2019-01-17 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276843 SCV002566279 likely benign Ehlers-Danlos syndrome 2019-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002343782 SCV002652998 likely benign Cardiovascular phenotype 2022-12-15 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.
Fulgent Genetics, Fulgent Genetics RCV002506704 SCV002810187 likely benign Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8 2021-08-27 criteria provided, single submitter clinical testing

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