ClinVar Miner

Submissions for variant NM_032575.3(GLIS2):c.1479C>T (p.Gly493=)

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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 RCV005101616 SCV005777543 likely benign Nephronophthisis 2024-07-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003894298 SCV004708663 likely benign GLIS2-related disorder 2020-10-19 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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