ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.43761T>C (p.Tyr14587=)

dbSNP: rs397517574
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Total submissions: 2
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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 RCV000040244 SCV000063935 likely benign not specified 2012-06-15 criteria provided, single submitter clinical testing Tyr12019Tyr in exon 186 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. Tyr12019Tyr in exon 186 of TTN (allele frequency = n/a)
Labcorp Genetics (formerly Invitae), Labcorp RCV000643594 SCV000765281 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-02-02 criteria provided, single submitter clinical testing

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