ClinVar Miner

Submissions for variant NM_138459.5(NUS1):c.752T>G (p.Leu251Ter)

dbSNP: rs1773460504
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001260227 SCV001437194 pathogenic not provided 2020-09-11 criteria provided, single submitter clinical testing
OMIM RCV001580578 SCV001810146 pathogenic Intellectual disability, autosomal dominant 55, with seizures 2021-10-20 no assertion criteria provided literature only

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