ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.2373C>T (p.Ser791=)

gnomAD frequency: 0.00587  dbSNP: rs112581362
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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 RCV000247517 SCV000313360 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001534424 SCV001751353 likely benign not provided 2021-10-06 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278186 SCV002566229 likely benign Ehlers-Danlos syndrome 2021-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002446490 SCV002735046 benign Cardiovascular phenotype 2019-07-05 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 RCV002494755 SCV002799052 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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