ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.10554C>T (p.Tyr3518=)

gnomAD frequency: 0.00690  dbSNP: rs115065067
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001716875 SCV001941923 benign not provided 2021-01-11 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276868 SCV002566176 benign Ehlers-Danlos syndrome 2022-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002405278 SCV002710708 benign Cardiovascular phenotype 2019-04-24 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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