ClinVar Miner

Submissions for variant NM_006929.5(SKIC2):c.1647+1G>A

dbSNP: rs1772638226
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong RCV001257083 SCV001364383 likely pathogenic Trichohepatoenteric syndrome 2 2020-06-02 criteria provided, single submitter research

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