ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.25351+13C>G (rs138362885)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040027 SCV000063718 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing 21619+13C>G in intron 84 of TTN: This variant is not expected to have clinical s ignificance because it is not located within the splice consensus sequence. It h as been identified in 0.3% (8/3124) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project ( EVS; dbSNP rs138362885). 21619+13C>G in intron 84 of TTN (rs138362885; allele f requency = 0.3%, 8/3124) **
GeneDx RCV000040027 SCV000515104 likely benign not specified 2017-11-30 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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