ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.10368C>T (p.Thr3456=)

gnomAD frequency: 0.00261  dbSNP: rs116701346
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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 RCV000243267 SCV000313325 benign not specified criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000585077 SCV000693204 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing TNXB: BP4, BP7, BS2
GeneDx RCV000585077 SCV001801007 likely benign not provided 2021-01-30 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278179 SCV002566172 likely benign Ehlers-Danlos syndrome 2020-09-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002392770 SCV002702825 likely benign Cardiovascular phenotype 2020-01-17 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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