ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.25002T>C (p.Tyr8334=)

gnomAD frequency: 0.00003  dbSNP: rs371334680
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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 RCV000040016 SCV000063707 likely benign not specified 2011-09-28 criteria provided, single submitter clinical testing Tyr7090Tyr in exon 83 of TTN: This variant does not change an amino acid and doe s not affect the splice consensus sequence. This makes a disease causing role v ery unlikely.
GeneDx RCV001697134 SCV000722430 likely benign not provided 2019-10-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000643574 SCV000765261 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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