ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.57848-4G>A

gnomAD frequency: 0.00003  dbSNP: rs369462016
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001430897 SCV001633645 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-04-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002442865 SCV002753830 uncertain significance Cardiovascular phenotype 2021-06-27 criteria provided, single submitter clinical testing The c.30653-4G>A intronic variant results from a G to A substitution 4 nucleotides upstream from coding exon 123 in the TTN gene. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002501317 SCV002806351 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 2021-10-13 criteria provided, single submitter clinical testing

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