ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.21521C>T (p.Ala7174Val)

gnomAD frequency: 0.00006  dbSNP: rs764832849
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000726509 SCV000238296 likely benign not provided 2018-03-22 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726509 SCV000701525 uncertain significance not provided 2016-09-27 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000726509 SCV003822982 uncertain significance not provided 2020-04-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000726509 SCV004155275 uncertain significance not provided 2023-09-01 criteria provided, single submitter clinical testing TTN: PM2, BP4

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