ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.7866C>T (p.Thr2622=)

gnomAD frequency: 0.00086  dbSNP: rs4711284
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001577962 SCV001805463 likely benign not provided 2021-02-26 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276812 SCV002566329 likely benign Ehlers-Danlos syndrome 2020-07-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002414278 SCV002680966 benign Cardiovascular phenotype 2019-11-25 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.

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