ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.8594T>C (p.Met2865Thr)

gnomAD frequency: 0.00198  dbSNP: rs373158501
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001676420 SCV001895439 benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276857 SCV002565165 benign Ehlers-Danlos syndrome 2020-07-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002449397 SCV002679894 likely benign Cardiovascular phenotype 2019-03-04 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.

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