ClinVar Miner

Submissions for variant NM_152281.3(GORAB):c.658G>C (p.Ala220Pro)

dbSNP: rs183596463
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000202357 SCV005038825 pathogenic Geroderma osteodysplastica 2024-03-14 criteria provided, single submitter clinical testing
OMIM RCV000202357 SCV000257359 pathogenic Geroderma osteodysplastica 2009-10-01 no assertion criteria provided literature only

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