ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.39045G>C (p.Val13015=)

gnomAD frequency: 0.00012  dbSNP: rs192464868
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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 RCV000040186 SCV000063877 likely benign not specified 2012-06-26 criteria provided, single submitter clinical testing Val10581Val in exon 156 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 2.3% (3/132) of Me xican chromosomes a broad population by the 1000 Genomes Project (dbSNP rs192464 868). Val10581Val in exon 156 of TTN (rs192464868; allele frequency = 2.3%, 3/ 132)
Invitae RCV000234657 SCV000286629 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-26 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000040186 SCV000336365 benign not specified 2015-10-06 criteria provided, single submitter clinical testing
GeneDx RCV000040186 SCV000515121 benign not specified 2015-04-17 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.
Genome-Nilou Lab RCV001839593 SCV002101257 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839594 SCV002101259 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839595 SCV002101260 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839592 SCV002101261 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing

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