ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.76383TAA[1] (p.Asn25462del)

dbSNP: rs749648136
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000372952 SCV000333789 uncertain significance not provided 2015-09-10 criteria provided, single submitter clinical testing
GeneDx RCV000372952 SCV001791916 likely benign not provided 2019-10-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002347989 SCV002646248 likely benign Cardiovascular phenotype 2020-08-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Clinical Genetics, Academic Medical Center RCV000372952 SCV001925062 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000372952 SCV001968899 uncertain significance not provided no assertion criteria provided clinical testing

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