ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.489C>T (p.Pro163=)

gnomAD frequency: 0.00056  dbSNP: rs113245789
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000468192 SCV000561653 benign Amelocerebrohypohidrotic syndrome 2025-01-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424038 SCV004141025 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing ROGDI: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003902708 SCV004721086 likely benign ROGDI-related disorder 2019-10-14 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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