ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.53002+9C>T

gnomAD frequency: 0.00001  dbSNP: rs374671774
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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 RCV000156054 SCV000205767 likely benign not specified 2013-09-24 criteria provided, single submitter clinical testing 45298+9C>T in intron 225 of TTN: This variant is not expected to have clinical s ignificance because it is not located within the splice consensus sequence. 45 298+9C>T in intron 225 of TTN (allele frequency = n/a)
Invitae RCV000643164 SCV000764851 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-29 criteria provided, single submitter clinical testing

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