ClinVar Miner

Submissions for variant NM_001958.5(EEF1A2):c.305T>C (p.Met102Thr)

dbSNP: rs2082414008
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001295060 SCV001483969 uncertain significance Developmental and epileptic encephalopathy, 33 2021-08-28 criteria provided, single submitter clinical testing
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV003148974 SCV003836685 likely pathogenic Hereditary spastic paraplegia 46 2020-01-07 criteria provided, single submitter clinical testing

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