ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.20736A>G (p.Leu6912=)

dbSNP: rs876657600
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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 RCV000215930 SCV000270985 likely benign not specified 2015-07-22 criteria provided, single submitter clinical testing p.Leu5668Leu in exon 68 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.
Invitae RCV002517517 SCV003449102 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-03 criteria provided, single submitter clinical testing

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