ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.39818-9T>C

gnomAD frequency: 0.00004  dbSNP: rs368834130
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000461057 SCV000555349 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-11-21 criteria provided, single submitter clinical testing
GeneDx RCV002466511 SCV002762244 uncertain significance not provided 2022-12-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Fulgent Genetics, Fulgent Genetics RCV002489096 SCV002799036 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 2022-05-26 criteria provided, single submitter clinical testing

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