ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.25453A>G (p.Ile8485Val)

gnomAD frequency: 0.00001  dbSNP: rs1560628327
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680136 SCV000807580 uncertain significance 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 2017-09-01 criteria provided, single submitter clinical testing This variant was found once in our laboratory with a pathogenic variant (phase unknown) in a newborn male with hypotonia, minimal movements, arthrogyposis multiplex, mild asymmetry of olfactory bulbs, PFO, femur fractures, family history of a sister with a similar phenotype (not tested)
Fulgent Genetics, Fulgent Genetics RCV000680136 SCV002782731 uncertain significance 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 2021-09-20 criteria provided, single submitter clinical testing

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