ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.1833A>G (p.Thr611=)

gnomAD frequency: 0.00063  dbSNP: rs147716085
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 RCV000866577 SCV001007691 likely benign Hereditary spastic paraplegia 49 2024-01-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV000866577 SCV002091116 benign Hereditary spastic paraplegia 49 2019-10-21 no assertion criteria provided clinical testing

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