ClinVar Miner

Submissions for variant NM_001379228.1(MRAP):c.106+1del

gnomAD frequency: 0.00001  dbSNP: rs1476574441
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000513343 SCV000608363 pathogenic Glucocorticoid deficiency 1 2017-10-04 criteria provided, single submitter clinical testing
3billion RCV002250648 SCV002521146 pathogenic Glucocorticoid deficiency 2 2022-05-22 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: <0.001%). Canonical splice site: predicted to alter splicing and result in a loss or disruption of normal protein function. Multiple pathogenic loss-of-function variants are reported downstream of the variant. The variant has been reported to be associated with MRAP related disorder (ClinVar ID: VCV000444068 / PMID: 15654338). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
OMIM RCV002250648 SCV000022071 pathogenic Glucocorticoid deficiency 2 2005-02-01 no assertion criteria provided literature only

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