ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.9306-4A>G (rs757164431)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000215025 SCV000271119 likely benign not specified 2014-12-30 criteria provided, single submitter clinical testing c.9306-4A>G in intron 39 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 2/67652 European chromosomes by the Exome Aggregation Cons ortium (ExAC, http://exac.broadinstitute.org).
GeneDx RCV000215025 SCV000732385 likely benign not specified 2017-05-16 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 RCV000643841 SCV000765528 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-11-15 criteria provided, single submitter clinical testing

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