ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.102183C>T (p.Arg34061=) (rs727504536)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000839319 SCV000981214 likely benign not provided 2018-03-21 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155687 SCV000205397 likely benign not specified 2013-04-26 criteria provided, single submitter clinical testing Arg31493Arg in exon 307 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. Arg31493Arg in exon 307 of TTN (allele freq uency = n/a)

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