ClinVar Miner

Submissions for variant NM_001128126.3(AP4S1):c.17T>C (p.Leu6Pro)

gnomAD frequency: 0.00001  dbSNP: rs1335804396
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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 RCV000622777 SCV000742702 likely pathogenic Inborn genetic diseases 2017-07-24 criteria provided, single submitter clinical testing
Yale Center for Mendelian Genomics, Yale University RCV001849416 SCV002106901 likely pathogenic Spastic paraplegia 2020-10-01 no assertion criteria provided literature only

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