ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.27886+10A>G

dbSNP: rs397517526
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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 RCV000040072 SCV000063763 likely benign not specified 2012-01-13 criteria provided, single submitter clinical testing 24154+10A>G in intron 93 of TTN: This variant is not expected to have clinical s ignificance because it is not located within the splice consensus sequence. 241 54+10A>G in intron 93 of TTN (allele frequency = n/a)
Invitae RCV003764694 SCV004577561 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-03-01 criteria provided, single submitter clinical testing

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