ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11450G>A (p.Gly3817Asp)

dbSNP: rs371056587
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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 RCV000041077 SCV000064768 uncertain significance not specified 2012-02-10 criteria provided, single submitter clinical testing The Gly3579Asp variant (TTN) has not been previously reported nor previously ide ntified by our laboratory. Another variant at this position (Gly3579Val) has bee n identified in 1/3014 African American chromosomes from a broad population by t he NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). Computatio nal tools are limited or unavailable for this variant. In summary, the clinical significance of this variant cannot be determined at this time.

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