ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.104592G>A (p.Pro34864=) (rs144094650)

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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 RCV000154871 SCV000204553 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Pro32296Pro 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. It has been identified in 0.1% (5/3440) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs144094650). Pro32296Pro in exon 307 of TTN (rs144094650; allele frequency = 0.1%, 5/3440) **
GeneDx RCV000154871 SCV000236702 benign not specified 2014-09-04 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 RCV000473183 SCV000555096 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000154871 SCV000855182 likely benign not specified 2018-07-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000154871 SCV001554617 likely benign not specified 2021-03-25 criteria provided, single submitter clinical testing

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