ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.20142C>T (p.Tyr6714=)

dbSNP: rs535793314
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Total submissions: 6
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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 RCV000156726 SCV000206447 likely benign not specified 2014-08-13 criteria provided, single submitter clinical testing Tyr5470Tyr in exon 66 of TTN: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence.
Labcorp Genetics (formerly Invitae), Labcorp RCV000877286 SCV001020000 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840197 SCV002099926 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840198 SCV002099927 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840199 SCV002099928 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840196 SCV002099929 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing

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