ClinVar Miner

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

dbSNP: rs1965431981
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001374867 SCV004041549 likely pathogenic Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome 2023-03-13 criteria provided, single submitter clinical testing
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 Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome 2021-06-24 no assertion criteria provided literature only

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