ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.44281+8T>C

gnomAD frequency: 0.00003  dbSNP: rs369121980
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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 RCV000218467 SCV000271023 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing c.36577+8T>C in intron 188 of TTN: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. It has been identified in 1/2934 African American chromosomes from a broad populat ion by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS).
GeneDx RCV000828071 SCV000969750 likely benign not provided 2018-05-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001475058 SCV001679241 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-10-23 criteria provided, single submitter clinical testing

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