ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.669A>C (p.Pro223=)

gnomAD frequency: 0.00004  dbSNP: rs750443286
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001277537 SCV001594694 likely benign Hereditary spastic paraplegia 49 2024-01-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003973171 SCV004791571 likely benign TECPR2-related condition 2019-03-27 criteria provided, single submitter 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).
Natera, Inc. RCV001277537 SCV001464497 uncertain significance Hereditary spastic paraplegia 49 2020-04-16 no assertion criteria provided clinical testing

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