ClinVar Miner

Submissions for variant NM_001386298.1(CIC):c.7506dup (p.Pro2503fs)

dbSNP: rs1422380205
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002249498 SCV002518100 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center RCV000791311 SCV000930600 likely pathogenic NK-cell enteropathy 2019-07-31 no assertion criteria provided clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985228 SCV001133262 uncertain significance Intellectual disability, autosomal dominant 45 2019-09-26 no assertion criteria provided clinical testing

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