ClinVar Miner

Submissions for variant NM_013245.3(VPS4A):c.83C>T (p.Ala28Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
RBC Disorders, Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center RCV001290972 SCV001479319 likely pathogenic Syndromic congenital hemolytic and dyserythropoietic anemia 2020-05-01 criteria provided, single submitter clinical testing
OMIM RCV001374867 SCV001571702 pathogenic CIMDAG SYNDROME 2021-04-22 no assertion criteria provided literature only

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