ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.1469G>A (p.Arg490Gln)

gnomAD frequency: 0.00554  dbSNP: rs118086587
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244911 SCV000313354 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001707593 SCV001935975 benign not provided 2018-07-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278183 SCV002566206 benign Ehlers-Danlos syndrome 2022-07-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002392771 SCV002701269 benign Cardiovascular phenotype 2019-02-01 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 RCV002503946 SCV002799501 benign Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8 2021-07-07 criteria provided, single submitter clinical testing

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