ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.9663G>A (p.Val3221=)

gnomAD frequency: 0.00061  dbSNP: rs2242569
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001575782 SCV001802842 likely benign not provided 2020-09-17 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276810 SCV002565206 likely benign Ehlers-Danlos syndrome 2020-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002386468 SCV002694206 benign Cardiovascular phenotype 2019-05-29 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.
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001575782 SCV001808136 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001575782 SCV001932829 likely benign not provided no assertion criteria provided clinical testing

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