ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.17280G>A (p.Thr5760=)

gnomAD frequency: 0.00001  dbSNP: rs748617936
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000396640 SCV000334877 uncertain significance not provided 2015-09-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003235175 SCV003934098 likely benign not specified 2023-05-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000396640 SCV004148127 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing TTN: BP4, BP7

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