ClinVar Miner

Submissions for variant NM_007347.5(AP4E1):c.1066+51T>C

gnomAD frequency: 0.20641  dbSNP: rs2291107
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000837726 SCV000979586 benign not provided 2018-06-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV002260065 SCV002539350 benign Hereditary spastic paraplegia 51 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260066 SCV002539352 benign Stuttering, familial persistent, 1 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000837726 SCV005295781 benign not provided criteria provided, single submitter not provided

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