ClinVar Miner

Submissions for variant NM_002303.6(LEPR):c.695T>G (p.Ile232Arg)

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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 RCV005102997 SCV005767087 likely benign not provided 2024-11-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004545665 SCV004781524 likely benign LEPR-related disorder 2022-04-13 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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