ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.1151-8C>T

gnomAD frequency: 0.00003  dbSNP: rs200402056
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001849015 SCV002105834 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
Invitae RCV002060744 SCV002392024 benign Hereditary spastic paraplegia 7 2021-09-07 criteria provided, single submitter clinical testing

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