ClinVar Miner

Submissions for variant NM_152281.3(GORAB):c.231dup (p.Pro78fs)

dbSNP: rs1571243797
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000984957 SCV004805407 pathogenic Geroderma osteodysplastica 2024-03-25 criteria provided, single submitter research
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000984957 SCV001132872 pathogenic Geroderma osteodysplastica 2019-01-29 no assertion criteria provided clinical testing
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) RCV000984957 SCV003927890 likely pathogenic Geroderma osteodysplastica 2023-04-01 no assertion criteria provided clinical testing

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