ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.846C>T (p.Cys282=)

gnomAD frequency: 0.00011  dbSNP: rs201691545
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000868054 SCV001009341 likely benign Hereditary spastic paraplegia 49 2024-03-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV000868054 SCV001461367 uncertain significance Hereditary spastic paraplegia 49 2020-01-24 no assertion criteria provided clinical testing

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