ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.2376G>A (p.Lys792=)

dbSNP: rs727504854
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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 RCV000156203 SCV000205919 likely benign not specified 2013-12-04 criteria provided, single submitter clinical testing Lys792Lys in exon 15 of TTN: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. Lys792Lys in exon 15 of TTN (allele frequency = n/a)

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