ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.7680C>T (p.Asp2560=)

gnomAD frequency: 0.10128  dbSNP: rs12196385
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253754 SCV000313393 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001597021 SCV001830410 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002401962 SCV002669482 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.
Breakthrough Genomics, Breakthrough Genomics RCV001597021 SCV005225616 likely benign not provided criteria provided, single submitter not provided

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