ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.747C>T (p.Cys249=)

gnomAD frequency: 0.00005  dbSNP: rs375794279
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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 RCV000863831 SCV001004551 likely benign Amelocerebrohypohidrotic syndrome 2024-09-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003928361 SCV004738279 likely benign ROGDI-related disorder 2019-09-10 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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