ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.904A>G (p.Thr302Ala)

gnomAD frequency: 0.05885  dbSNP: rs1150752
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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 RCV000252628 SCV000313404 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001610709 SCV001838320 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002374426 SCV002688079 benign Cardiovascular phenotype 2018-12-24 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.
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000252628 SCV001977696 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000252628 SCV001977796 benign not specified no assertion criteria provided clinical testing

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