ClinVar Miner

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

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Aleixo Muise Laboratory, The Hospital for Sick Children RCV001270909 SCV001450454 likely pathogenic Colitis; Immunodeficiency; Skin rash; Arthritis; Decreased antibody level in blood 2020-12-10 criteria provided, single submitter research de novo (from TRIO WES)

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