ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.61322A>G (p.Asn20441Ser) (rs147580753)

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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, Partners HealthCare Personalized Medicine RCV000040442 SCV000064133 likely benign not specified 2013-02-22 criteria provided, single submitter clinical testing Asn17873Ser in exon 253 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (10/3832) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS/; dbSNP rs147580753) and in 1/176 chromosomes from a population of Yoruba individuals by the 1000 Genomes project (dbSNP rs147580753 ). Asn17873Ser in exon 253 of TTN (rs147580753; allele frequency = 0.3%, 10/38 32) **
Genetic Services Laboratory,University of Chicago RCV000118772 SCV000153316 uncertain significance not provided 2014-02-07 criteria provided, single submitter clinical testing
GeneDx RCV000040442 SCV000237375 likely benign not specified 2017-06-01 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.
Invitae RCV001086533 SCV000286762 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000118772 SCV000701231 uncertain significance not provided 2017-02-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617338 SCV000736496 likely benign Cardiovascular phenotype 2018-08-02 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification

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