ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.12733A>C (p.Asn4245His) (rs199652066)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000251992 SCV000320093 likely benign Cardiovascular phenotype 2016-12-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
Athena Diagnostics Inc RCV000041098 SCV000615988 benign not specified 2016-10-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041098 SCV000333892 likely benign not specified 2015-08-21 criteria provided, single submitter clinical testing
GeneDx RCV000041098 SCV000238179 likely benign not specified 2017-06-26 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 RCV000467519 SCV000555533 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2018-01-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041098 SCV000064789 likely benign not specified 2012-01-24 criteria provided, single submitter clinical testing Asn4007His in exon 45B of TTN: This variant is not expected to have clinical sig nificance because it has been identified in 0.4% (12/3202) of African American c hromosomes by the NHLBI Exome Sequencing Project in a broad population (http://e vs.gs.washington.edu/EVS). Asn4007His in exon 45B of TTN (allele frequency = 0. 4%, 12/3202) **

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