ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11311+4470A>G (rs201945197)

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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 RCV000041029 SCV000064720 likely benign not specified 2011-11-10 criteria provided, single submitter clinical testing Gln4582Gln in exon 45A of TTN: This variant does not change an amino acid and do es not affect the splice consensus sequence. This makes a disease causing role v ery unlikely. Gln4582Gln in exon 45A of TTN (allele frequency = n/a)
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727157 SCV000706203 uncertain significance not provided 2017-02-06 criteria provided, single submitter clinical testing

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