ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.45083-12C>T

gnomAD frequency: 0.00006  dbSNP: rs377143579
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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 RCV000610255 SCV000710958 likely benign not specified 2016-12-08 criteria provided, single submitter clinical testing c.37379-12C>T in intron 193 of TTN: This variant is not expected to have clinica l significance because a C>T change at this position does not diverge from the s plice consensus sequence and is therefore unlikely to impact splicing. It has al so been identified in 2/9468 African chromosomes by the Exome Aggregation Consor tium (ExAC, http://exac.broadinstitute.org; dbSNP rs377143579).
GeneDx RCV001584409 SCV001820960 likely benign not provided 2018-09-24 criteria provided, single submitter clinical testing
Invitae RCV002065188 SCV002380568 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-11-28 criteria provided, single submitter clinical testing

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