ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.26067C>T (p.Tyr8689=)

gnomAD frequency: 0.00001  dbSNP: rs377125716
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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 RCV000040042 SCV000063733 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Tyr7445Tyr in Exon 87 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence. It has been identified in 1/3190 African Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS;).
Labcorp Genetics (formerly Invitae), Labcorp RCV001455982 SCV001659755 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2020-01-25 criteria provided, single submitter clinical testing

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