ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.32722+8C>T

gnomAD frequency: 0.00004  dbSNP: rs765936606
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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 RCV000213676 SCV000271010 likely benign not specified 2015-05-07 criteria provided, single submitter clinical testing c.28990+8C>T in intron 129 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 5/7894 East Asian chromosomes by the Exome Aggregation C onsortium (ExAC, http://exac.broadinstitute.org).
Invitae RCV001393556 SCV001595223 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-07 criteria provided, single submitter clinical testing

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