ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.21003A>G (p.Lys7001=) (rs727504579)

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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,Partners HealthCare Personalized Medicine RCV000155751 SCV000205462 likely benign not specified 2015-10-01 criteria provided, single submitter clinical testing p.Lys5757Lys in exon 69 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 3/11468 Latino chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725659 SCV000338439 uncertain significance not provided 2016-01-15 criteria provided, single submitter clinical testing
Invitae RCV000642848 SCV000764535 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-07-01 criteria provided, single submitter clinical testing

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