ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.66787C>T (p.Leu22263Phe)

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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 RCV002357650 SCV002622957 likely benign Cardiovascular phenotype 2020-06-01 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.
Revvity Omics, Revvity RCV003138179 SCV003818429 uncertain significance not provided 2021-06-18 criteria provided, single submitter clinical testing

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