ClinVar Miner

Submissions for variant NM_001145805.2(IRGM):c.313C>T (p.Leu105=)

gnomAD frequency: 0.20755  dbSNP: rs10065172
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
H3Africa Consortium RCV001777145 SCV002014640 benign not specified 2020-10-28 criteria provided, single submitter research While the frequency of the alternate allele in gnoMAD v2.0.2 is 0.646, its frequency in African populations is >5%. This suggests that previous classifications of this variant as pathogenic are in error.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000023694 SCV004809758 benign Inflammatory bowel disease 19 2024-04-04 criteria provided, single submitter clinical testing
OMIM RCV000023694 SCV000044985 pathogenic Inflammatory bowel disease 19 2011-03-01 no assertion criteria provided literature only

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