ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.46557T>G (p.Val15519=)

dbSNP: rs727503626
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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 RCV000152349 SCV000201259 likely benign not specified 2013-12-06 criteria provided, single submitter clinical testing Val12951Val in exon 199 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. Val12951Val in exon 199 of TTN (allele fre quency = n/a)

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