ClinVar Miner

Submissions for variant NM_001271803.2(REEP2):c.555C>T (p.Ile185=)

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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 RCV003583332 SCV004368241 likely benign Hereditary spastic paraplegia 72 2024-09-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003966459 SCV004782586 likely benign REEP2-related disorder 2019-08-30 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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