ClinVar Miner

Submissions for variant NM_001253852.3(AP4B1):c.1345A>T (p.Arg449Ter)

gnomAD frequency: 0.00002  dbSNP: rs142209254
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624560 SCV000742036 pathogenic Inborn genetic diseases 2016-11-30 criteria provided, single submitter clinical testing
Yale Center for Mendelian Genomics, Yale University RCV001849414 SCV002106830 likely pathogenic Spastic paraplegia 2020-10-01 no assertion criteria provided literature only

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