ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.40558+4T>C

gnomAD frequency: 0.00001  dbSNP: rs398124451
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082400 SCV000114388 uncertain significance not provided 2013-05-31 criteria provided, single submitter clinical testing
Invitae RCV000554228 SCV000643121 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-06-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381406 SCV002694492 uncertain significance Cardiovascular phenotype 2020-03-06 criteria provided, single submitter clinical testing The c.13363+4T>C intronic variant results from a T to C substitution 4 nucleotides after coding exon 46 in the TTN gene. This nucleotide position is not well conserved in available vertebrate species. Using two different splice site prediction tools, this alteration is not predicted to have a deleterious effect on this splice donor site by BDGP, but ESEfinder does not produce a reliable prediction for the nearby native splice donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002483153 SCV002786949 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 2021-07-21 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000082400 SCV003827387 uncertain significance not provided 2021-09-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003155071 SCV003845066 uncertain significance not specified 2023-02-20 criteria provided, single submitter clinical testing

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