ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.6375C>T (p.Tyr2125=)

dbSNP: rs2092122331
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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 RCV001195472 SCV001365849 likely benign not specified 2019-09-13 criteria provided, single submitter clinical testing The p.Tyr2125Tyr variant in TTN is classified as likely benign because it does not alter an amino acid residue, it is not located within the splice consensus sequence, and splice prediction algorithms do not predict a newly created splice site. ACMG/AMP Criteria applied: BP4, BP7.
Labcorp Genetics (formerly Invitae), Labcorp RCV002069274 SCV002348586 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-04-08 criteria provided, single submitter clinical testing

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