ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.19728C>T (p.Phe6576=)

gnomAD frequency: 0.00003  dbSNP: rs751902051
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Total submissions: 4
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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 RCV000216993 SCV000270982 likely benign not specified 2015-06-25 criteria provided, single submitter clinical testing p.Phe5332Phe in exon 65 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 5/64462 European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org).
Eurofins Ntd Llc (ga) RCV000725089 SCV000333935 uncertain significance not provided 2015-08-17 criteria provided, single submitter clinical testing
GeneDx RCV000725089 SCV000730342 likely benign not provided 2020-09-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001084496 SCV000765273 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-11-24 criteria provided, single submitter clinical testing

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