ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.14588G>A (p.Gly4863Glu)

gnomAD frequency: 0.00003  dbSNP: rs375680312
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000725307 SCV000238201 likely benign not provided 2018-12-05 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000725307 SCV000335921 uncertain significance not provided 2016-06-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000725307 SCV003916209 uncertain significance not provided 2023-01-01 criteria provided, single submitter clinical testing TTN: PM2, PM3:Supporting

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