ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.9571G>A (p.Gly3191Ser)

gnomAD frequency: 0.00887  dbSNP: rs60738846
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001669606 SCV001887517 benign not provided 2019-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002386497 SCV002694641 benign Cardiovascular phenotype 2019-04-19 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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