ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.24T>C (p.Val8=)

dbSNP: rs1245523859
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001457696 SCV001661501 likely benign Hereditary spastic paraplegia 49 2023-12-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003946193 SCV004771946 likely benign TECPR2-related disorder 2019-07-15 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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