ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.41178C>T (p.Ile13726=)

dbSNP: rs1559992784
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730115 SCV000857829 uncertain significance not provided 2017-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002388363 SCV002697141 likely benign Cardiovascular phenotype 2018-05-14 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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