ClinVar Miner

Submissions for variant NM_001039396.2(MPEG1):c.217A>G (p.Thr73Ala)

gnomAD frequency: 0.00215  dbSNP: rs143527301
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pars Genome Lab RCV001338472 SCV002549909 likely benign Immunodeficiency 77 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003393984 SCV004132167 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing MPEG1: BS2
OMIM RCV001338472 SCV001532139 pathogenic Immunodeficiency 77 2021-03-18 no assertion criteria provided literature only

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