ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.77013T>C (p.Tyr25671=)

dbSNP: rs397517707
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040622 SCV000064313 likely benign not specified 2012-05-10 criteria provided, single submitter clinical testing Tyr23103Tyr in exon 275 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. Tyr23103Tyr in exon 275 of TTN (allele fre quency = n/a) **
Ambry Genetics RCV002345312 SCV002645619 likely benign Cardiovascular phenotype 2022-05-02 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.
Invitae RCV002513568 SCV003349307 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-31 criteria provided, single submitter clinical testing

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