ClinVar Miner

Submissions for variant NM_014639.4(SKIC3):c.1757+1G>A

dbSNP: rs570910902
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV001027639 SCV001190210 likely pathogenic Inherited Immunodeficiency Diseases 2019-01-01 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV002497347 SCV002809871 likely pathogenic Trichohepatoenteric syndrome 1 2021-12-16 criteria provided, single submitter clinical testing

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