ClinVar Miner

Submissions for variant NM_030943.4(AMN):c.493dup (p.Ser165fs)

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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 Hematology, Children's Hospital Affiliated to Kunming Medical University RCV003313282 SCV002819951 pathogenic Imerslund-Grasbeck syndrome type 2 criteria provided, single submitter clinical testing

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