ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.9150A>G (p.Thr3050=) (rs72647886)

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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, Partners HealthCare Personalized Medicine RCV000040883 SCV000064574 benign not specified 2012-07-18 criteria provided, single submitter clinical testing Thr3050Thr in Exon 38 of TTN: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence and has been identified in 1.2% (51/4406) of Afric an American chromosomes from a broad population by the NHLBI Exome Sequencing Pr oject (http://evs.gs.washington.edu/EVS; dbSNP rs72647886).
GeneDx RCV000040883 SCV000169527 benign not specified 2012-11-28 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 RCV000232298 SCV000286909 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000248123 SCV000318578 likely benign Cardiovascular phenotype 2013-04-16 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040883 SCV000342147 benign not specified 2016-09-06 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000040883 SCV000616173 benign not specified 2017-02-07 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769104 SCV000900477 benign Cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000040883 SCV001432052 benign not specified 2020-08-08 criteria provided, single submitter clinical testing

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