ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.39045G>C (p.Val13015=) (rs192464868)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare 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; Limb-girdle muscular dystrophy, type 2J 2020-10-26 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 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.

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