ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.69413-3C>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002328042 SCV002630107 uncertain significance Cardiovascular phenotype 2023-06-22 criteria provided, single submitter clinical testing The c.42218-3C>A intronic variant results from a C to A substitution 3 nucleotides upstream from coding exon 152 in the TTN gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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