ClinVar Miner

Submissions for variant NM_001961.4(EEF2):c.366C>T (p.Thr122=)

gnomAD frequency: 0.00001  dbSNP: rs562486328
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000996717 SCV001151595 uncertain significance not provided 2018-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000996717 SCV003296018 likely benign not provided 2024-05-15 criteria provided, single submitter clinical testing

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