ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.53002+10G>T

dbSNP: rs370352450
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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 RCV000215221 SCV000271036 likely benign not specified 2015-04-07 criteria provided, single submitter clinical testing c.45298+10G>T in intron 225 of TTN: This variant is not expected to have clinica l significance because it is not located within the splice consensus sequence.
Labcorp Genetics (formerly Invitae), Labcorp RCV001439021 SCV001641902 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-10-23 criteria provided, single submitter clinical testing

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