ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.87102T>A (p.Leu29034=)

gnomAD frequency: 0.00002  dbSNP: rs781200259
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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 RCV000215420 SCV000271099 likely benign not specified 2015-03-13 criteria provided, single submitter clinical testing p.Leu26466Leup in exon 276 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 2/7800 East Asi an chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinsti tute.org).
Labcorp Genetics (formerly Invitae), Labcorp RCV001457477 SCV001661280 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-11-08 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798704 SCV002043029 likely benign Cardiomyopathy 2020-04-15 criteria provided, single submitter clinical testing

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