ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.47693G>A (p.Arg15898Gln)

gnomAD frequency: 0.00007  dbSNP: rs376278449
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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) RCV000313071 SCV000345323 uncertain significance not provided 2016-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000475193 SCV000542694 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765569 SCV000896884 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 2018-10-31 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798776 SCV002042506 likely benign Cardiomyopathy 2022-02-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002418137 SCV002728915 uncertain significance Cardiovascular phenotype 2020-01-28 criteria provided, single submitter clinical testing The p.R6833Q variant (also known as c.20498G>A), located in coding exon 81 of the TTN gene, results from a G to A substitution at nucleotide position 20498. The arginine at codon 6833 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000313071 SCV003820209 uncertain significance not provided 2019-03-29 criteria provided, single submitter clinical testing

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