ClinVar Miner

Submissions for variant NM_001002755.4(NFU1):c.298G>C (p.Ala100Pro)

dbSNP: rs1279585557
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001757857 SCV001987809 uncertain significance not provided 2020-01-11 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
OMIM RCV004699451 SCV005201141 pathogenic SPASTIC PARAPLEGIA 93, AUTOSOMAL RECESSIVE 2024-09-09 no assertion criteria provided literature only

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