ClinVar Miner

Submissions for variant NM_016525.5(UBAP1):c.535G>T (p.Glu179Ter)

dbSNP: rs1833955862
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
The William Harvey Research Institute, Queen Mary University RCV001199970 SCV001370784 pathogenic Spastic paraplegia 80, autosomal dominant 2020-05-17 no assertion criteria provided research
Genomics England Pilot Project, Genomics England RCV001199970 SCV001760234 likely pathogenic Spastic paraplegia 80, autosomal dominant no assertion criteria provided clinical testing

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