ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.88009+4C>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002360000 SCV002659905 uncertain significance Cardiovascular phenotype 2022-03-23 criteria provided, single submitter clinical testing The c.60814+4C>T intronic variant results from a C to T substitution 4 nucleotides after coding exon 156 in the TTN gene. This nucleotide position is not well 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.
Athena Diagnostics RCV002473372 SCV002770610 uncertain significance not provided 2022-04-18 criteria provided, single submitter clinical testing

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