ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.9988+9G>A

gnomAD frequency: 0.00001  dbSNP: rs397517801
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040990 SCV000064681 likely benign not specified 2012-02-07 criteria provided, single submitter clinical testing 9988+9G>A in intron 42 of TTN: This variant is not expected to have clinical sig nificance because it is not located within the splice consensus sequence. 9988+ 9G>A in intron 42 of TTN (allele frequency = n/a)

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