ClinVar Miner

Submissions for variant NM_015967.8(PTPN22):c.1858= (p.Trp620=)

gnomAD frequency: 0.06839  dbSNP: rs2476601
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000954217 SCV001100835 benign not provided 2018-10-17 criteria provided, single submitter clinical testing
OMIM RCV000009460 SCV000029678 risk factor Diabetes mellitus, insulin-dependent, susceptibility to 2011-08-14 no assertion criteria provided literature only
OMIM RCV000009461 SCV000029679 risk factor Rheumatoid arthritis 2011-08-14 no assertion criteria provided literature only
OMIM RCV000009462 SCV000029680 risk factor Systemic lupus erythematosus, susceptibility to 2011-08-14 no assertion criteria provided literature only
OMIM RCV000009463 SCV000029681 risk factor Hashimoto thyroiditis, susceptibility to 2011-08-14 no assertion criteria provided literature only
OMIM RCV000009464 SCV000029682 risk factor Addison disease, susceptibility to 2011-08-14 no assertion criteria provided literature only
Institute for Medical Immunology, Charité - Universitätsmedizin Berlin RCV001254797 SCV001167677 risk factor chronic fatigue syndrome with infection-triggered onset 2020-02-10 no assertion criteria provided case-control A allele is associated with chronic fatigue syndrome with infection-triggered onset (OR 1.63 [CI 1.04-2.55], p = 0,016)

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