ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.68887A>C (p.Thr22963Pro)

gnomAD frequency: 0.00004  dbSNP: rs771761816
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000714080 SCV000702885 uncertain significance not provided 2016-11-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000624211 SCV000743040 uncertain significance Inborn genetic diseases 2017-11-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
Athena Diagnostics Inc RCV000714080 SCV000844747 uncertain significance not provided 2018-03-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002331009 SCV002630292 uncertain significance Cardiovascular phenotype 2019-11-11 criteria provided, single submitter clinical testing The p.T13898P variant (also known as c.41692A>C), located in coding exon 151 of the TTN gene, results from an A to C substitution at nucleotide position 41692. The threonine at codon 13898 is replaced by proline, 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 Omics RCV000714080 SCV003821026 uncertain significance not provided 2022-12-21 criteria provided, single submitter clinical testing

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