ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.3380A>G (p.Lys1127Arg)

gnomAD frequency: 0.01812  dbSNP: rs61910712
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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 RCV000251988 SCV000313364 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001675749 SCV001894900 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278189 SCV002566246 benign Ehlers-Danlos syndrome 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002450780 SCV002618210 benign Cardiovascular phenotype 2019-04-23 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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