ClinVar Miner

Submissions for variant NM_002227.4(JAK1):c.1901C>A (p.Ala634Asp) (rs869312953)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000210558 SCV000262977 likely pathogenic Inborn genetic diseases criteria provided, single submitter clinical testing Overall WES conclusion for patient, including all identified alterations: LIKELY POSITIVE: Relevant Alteration(s) Detected (Novel Gene)
Database of Curated Mutations (DoCM) RCV000444628 SCV000510412 likely pathogenic Lymphoblastic leukemia, acute, with lymphomatous features 2016-05-13 no assertion criteria provided literature only
OMIM RCV001255134 SCV001431237 pathogenic AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA 2020-09-01 no assertion criteria provided literature only

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