ClinVar Miner

Submissions for variant NM_004247.4(EFTUD2):c.2624del (p.Ile875fs)

dbSNP: rs2145431524
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002255045 SCV002526298 likely pathogenic not provided 2022-05-31 criteria provided, single submitter clinical testing Frameshift variant in the C-terminus predicted to result in protein truncation, as the last 98 amino acids are lost and replaced with 59 incorrect amino acids; Not observed in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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