ClinVar Miner

Submissions for variant NM_001379228.1(MRAP):c.106+1G>C

gnomAD frequency: 0.00003  dbSNP: rs566223651
Minimum review status: Collection method:
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ClinVar version:
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 RCV000001911 SCV004231778 pathogenic Glucocorticoid deficiency 2 2023-05-12 criteria provided, single submitter clinical testing
OMIM RCV000001911 SCV000022069 pathogenic Glucocorticoid deficiency 2 2005-02-01 no assertion criteria provided literature only

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