ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.88009+13C>T

dbSNP: rs397517739
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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 RCV000040740 SCV000064431 likely benign not specified 2013-02-25 criteria provided, single submitter clinical testing 80305+13C>T in intron 278 of TTN: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. 80 305+13C>T in intron 278 of TTN (allele frequency = n/a)
GeneDx RCV000040740 SCV000725294 likely benign not specified 2017-11-22 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.
Invitae RCV002513569 SCV003011580 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-10-12 criteria provided, single submitter clinical testing

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