ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.101925A>G (p.Leu33975=) (rs201246720)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154876 SCV000204558 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Leu31407Leu in exon 307 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence and It has been identified in 0.1% (7/6704) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS). Leu31407Leu in exon 307 of TTN ( allele frequency = 0.1%, 7/6704) **
Ambry Genetics RCV000242624 SCV000319736 likely benign Cardiovascular phenotype 2015-06-29 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725822 SCV000339625 uncertain significance not provided 2016-02-24 criteria provided, single submitter clinical testing
GeneDx RCV000154876 SCV000515434 likely benign not specified 2016-10-31 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 RCV000725822 SCV000555150 likely benign not provided 2019-02-08 criteria provided, single submitter clinical testing

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