ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.91937A>G (p.Asn30646Ser) (rs72648245)

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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 RCV000040786 SCV000064477 benign not specified 2017-11-22 criteria provided, single submitter clinical testing p.Asn28078Ser in exon 287 of TTN: This variant is not expected to have clinical significance because it has been identified in 0.6% (153/24006) of African chrom osomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute. org; dbSNP rs72648245). BA1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000040786 SCV000228678 likely benign not specified 2014-09-03 criteria provided, single submitter clinical testing
GeneDx RCV000714118 SCV000237760 benign not provided 2020-05-22 criteria provided, single submitter clinical testing
Invitae RCV001082069 SCV000286912 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000249101 SCV000318787 likely benign Cardiovascular phenotype 2013-07-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Athena Diagnostics Inc RCV000714118 SCV000844793 likely benign not provided 2017-10-25 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768864 SCV000900237 benign Cardiomyopathy 2016-08-30 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000714118 SCV001926677 likely benign not provided no assertion criteria provided clinical testing

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