ClinVar Miner

Submissions for variant NM_198334.3(GANAB):c.2740C>T (p.Arg914Cys)

gnomAD frequency: 0.00003  dbSNP: rs751678133
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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 RCV002114141 SCV002436738 benign not provided 2024-08-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003951195 SCV004761101 likely benign GANAB-related disorder 2023-04-09 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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