ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.2280C>T (p.His760=)

gnomAD frequency: 0.00019  dbSNP: rs61744796
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 RCV000862359 SCV001002855 benign Hereditary spastic paraplegia 49 2025-01-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV000862359 SCV002091122 likely benign Hereditary spastic paraplegia 49 2019-10-23 no assertion criteria provided clinical testing

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