ClinVar Miner

Submissions for variant NM_138348.6(OTULIN):c.517del (p.Gly174fs)

dbSNP: rs886037886
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000240604 SCV000299201 pathogenic Infantile-onset periodic fever-panniculitis-dermatosis syndrome 2022-09-19 no assertion criteria provided literature only
OMIM RCV002273999 SCV002559863 risk factor Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection 2022-09-19 no assertion criteria provided literature only

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