ClinVar Miner

Submissions for variant NM_003177.7(SYK):c.1024C>A (p.Pro342Thr)

dbSNP: rs1827861920
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Aleixo Muise Laboratory, Hospital For Sick Children RCV001270909 SCV001450454 likely pathogenic Colitis; Immunodeficiency; Skin rash; Arthritis; Decreased circulating antibody level 2020-12-10 criteria provided, single submitter research de novo (from TRIO WES)
OMIM RCV002293255 SCV001738333 pathogenic Immunodeficiency 82 with systemic inflammation 2021-06-21 no assertion criteria provided literature only

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