ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.1361C>A (p.Ala454Glu)

dbSNP: rs121908201
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UniProtKB/Swiss-Prot RCV000059621 SCV000091188 not provided Neuronal ceroid lipofuscinosis 2 no assertion provided not provided
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital RCV000059621 SCV002060994 likely pathogenic Neuronal ceroid lipofuscinosis 2 no assertion criteria provided case-control

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