ClinVar Miner

Submissions for variant NM_003136.4(SRP54):c.343A>G (p.Thr115Ala) (rs1555354200)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular ImmunoRheumatology UMRS_1109,Institut national de la santé et de la recherche médicale RCV000577889 SCV000583970 pathogenic Shwachman syndrome 2017-07-14 no assertion criteria provided research

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