ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.63981A>G (p.Val21327=) (rs397517656)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040474 SCV000064165 likely benign not specified 2012-08-22 criteria provided, single submitter clinical testing Val18759Val in exon 256 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. Val18759Val in exon 256 of TTN (allele freq uency = n/a)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040474 SCV000706088 likely benign not specified 2017-02-02 criteria provided, single submitter clinical testing
GeneDx RCV000040474 SCV000721001 likely benign not specified 2017-07-05 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 RCV000959367 SCV001106270 benign not provided 2019-01-26 criteria provided, single submitter clinical testing

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