ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.14790C>G (p.Val4930=)

gnomAD frequency: 0.00003  dbSNP: rs370038956
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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 RCV000152441 SCV000201515 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Val4930Val in exon 45A of TTN: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 1/7020 European A merican chromosomes from a broad population by the NHLBI Exome Sequencing Projec t (http://evs.gs.washington.edu/EVS).
Fulgent Genetics, Fulgent Genetics RCV002492567 SCV002798127 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2022-03-31 criteria provided, single submitter clinical testing

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