ClinVar Miner

Submissions for variant NM_024105.4(ALG12):c.768+1dup

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital RCV003348535 SCV004046865 likely pathogenic ALG12-congenital disorder of glycosylation criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003348535 SCV005374331 pathogenic ALG12-congenital disorder of glycosylation 2024-09-22 criteria provided, single submitter clinical testing

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