ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.[1030C>T];[842T>G]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Innovations Lab, Hyderabad,Tata Consultancy Services Ltd RCV000170446 SCV000196639 pathogenic Microcephaly, normal intelligence and immunodeficiency no assertion criteria provided research Exome sequencing of DNA from an infant and his parents was performed. Genomic analysis revealed deleterious variants in the NBN gene. Confirmatory testing included Sanger sequencing and immunoblotting and radiosensitivity testing of patient lymphocytes.

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