ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.44040C>A (p.Pro14680=)

dbSNP: rs397517575
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040245 SCV000063936 likely benign not specified 2012-12-21 criteria provided, single submitter clinical testing Pro12112Pro in exon 187 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. Pro12112Pro in exon 187 of TTN (allele freq uency = n/a)

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