ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.80562G>A (p.Lys26854=)

dbSNP: rs397517717
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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 RCV000040658 SCV000064349 likely benign not specified 2012-04-17 criteria provided, single submitter clinical testing Lys24286Lys in exon 275 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and it is not located within the splice consensus sequence. Lys24286Lys in exon 275 of TTN (allele f requency = n/a)

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