ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.415C>T (p.Arg139Ter)

gnomAD frequency: 0.00001  dbSNP: rs370777371
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001785019 SCV002021939 pathogenic Hereditary spastic paraplegia 7 2021-11-02 criteria provided, single submitter clinical testing
Mendelics RCV001785019 SCV002519807 pathogenic Hereditary spastic paraplegia 7 2022-05-04 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV001785019 SCV004175825 likely pathogenic Hereditary spastic paraplegia 7 2023-02-14 criteria provided, single submitter clinical testing

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