ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.10960T>G (p.Ser3654Ala)

gnomAD frequency: 0.00600  dbSNP: rs1246945346
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001676717 SCV001892290 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004039938 SCV003546033 likely benign Cardiovascular phenotype 2022-05-11 criteria provided, single submitter clinical testing This alteration is classified as likely 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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