ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.7597A>G (p.Ile2533Val)

gnomAD frequency: 0.00009  dbSNP: rs372407708
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001779446 SCV002014832 uncertain significance not specified 2021-10-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002386557 SCV002674603 likely benign Cardiovascular phenotype 2020-06-25 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 RCV003136146 SCV003827934 uncertain significance not provided 2022-11-09 criteria provided, single submitter clinical testing

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