ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.1764G>A (p.Thr588=)

gnomAD frequency: 0.00017  dbSNP: rs373536584
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247647 SCV000309384 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV001497050 SCV001701764 likely benign Hereditary spastic paraplegia 7 2024-01-04 criteria provided, single submitter clinical testing
GeneDx RCV001589258 SCV001823854 likely benign not provided 2018-09-17 criteria provided, single submitter clinical testing

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