ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.13599A>G (p.Glu4533=)

dbSNP: rs727503654
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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 RCV000152414 SCV000201444 likely benign not specified 2014-08-21 criteria provided, single submitter clinical testing Glu4295Glu in exon 45B of TTN: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence.

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