ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.2075G>C (p.Ser692Thr)

dbSNP: rs121918357
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research RCV000007217 SCV005044565 likely pathogenic Hereditary spastic paraplegia 7 2022-01-01 criteria provided, single submitter research
OMIM RCV000007217 SCV000027413 pathogenic Hereditary spastic paraplegia 7 2007-07-24 no assertion criteria provided literature only

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