ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.3764G>A (p.Arg1255His)

gnomAD frequency: 0.08362  dbSNP: rs12211410
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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 RCV000251682 SCV000313367 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001668562 SCV001884932 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002347963 SCV002619729 benign Cardiovascular phenotype 2018-12-04 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 RCV000251682 SCV001977789 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001668562 SCV001978037 likely benign not provided no assertion criteria provided clinical testing

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