ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.41247A>G (p.Gln13749=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003345605 SCV004066375 likely benign Cardiovascular phenotype 2023-07-14 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.
CeGaT Center for Human Genetics Tuebingen RCV004585032 SCV005075563 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing TTN: BP4, BP7

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