ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.49533-13G>A

dbSNP: rs13395942
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Total submissions: 2
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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 RCV000826066 SCV000967560 uncertain significance not specified 2018-07-31 criteria provided, single submitter clinical testing The c.41829-13G>A variant in TTN has not been reported in individuals with cardi omyopathy or in large population studies. This variant is located in the 3' spli ce region. Computational tools do not predict altered splicing, though this info rmation is not predictive enough to rule out pathogenicity. In summary, the clin ical significance of the c.41829-13G>A variant is uncertain. ACMG/AMP Criteria a pplied: BP4, PM2.
Labcorp Genetics (formerly Invitae), Labcorp RCV003768564 SCV004588164 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-11-18 criteria provided, single submitter clinical testing

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