ClinVar Miner

Submissions for variant NM_013245.3(VPS4A):c.1232T>C (p.Leu411Pro)

dbSNP: rs2544556060
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003493206 SCV004237528 uncertain significance Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome 2023-04-20 criteria provided, single submitter clinical testing

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