ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.14935+9C>T

gnomAD frequency: 0.00005  dbSNP: rs544241749
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Total submissions: 8
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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 RCV000152407 SCV000201426 likely benign not specified 2014-05-01 criteria provided, single submitter clinical testing 11203+9C>T in intron 47 of TTN: This variant is not expected to have clinical si gnificance because it is not located within the splice consensus sequence.
GeneDx RCV000152407 SCV000236733 benign not specified 2014-12-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000460720 SCV000555469 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-08 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000152407 SCV001158190 benign not specified 2019-03-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840100 SCV002100734 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840101 SCV002100735 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840102 SCV002100736 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840099 SCV002100737 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing

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