ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.39296-4A>G

gnomAD frequency: 0.00001  dbSNP: rs368641171
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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 RCV000155595 SCV000205303 likely benign not specified 2013-03-27 criteria provided, single submitter clinical testing 31994-4A>G in intron 158 of TTN: This variant is not expected to have clinical s ignificance because it is not located within the splice consensus sequence. It h as been identified in 1/8188 of European American chromosomes from a broad popul ation by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). 31994-4A>G in intron 158 of TTN (allele frequency = 1/8188) **
Invitae RCV002056091 SCV002480206 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-07-14 criteria provided, single submitter clinical testing

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