ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.4161G>A (p.Ser1387=)

gnomAD frequency: 0.00011  dbSNP: rs150885756
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000870630 SCV001012151 likely benign Hereditary spastic paraplegia 49 2024-01-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV000870630 SCV001454407 uncertain significance Hereditary spastic paraplegia 49 2020-04-17 no assertion criteria provided clinical testing

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