ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52557C>T (p.Val17519=)

gnomAD frequency: 0.00002  dbSNP: rs397517610
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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 RCV000040334 SCV000064025 likely benign not specified 2012-04-17 criteria provided, single submitter clinical testing Val14951Val in exon 224 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. Val14951Val in exon 224 of TTN (allele freq uency = n/a)
Labcorp Genetics (formerly Invitae), Labcorp RCV003764695 SCV004573108 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-09-13 criteria provided, single submitter clinical testing

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