ClinVar Miner

Submissions for variant NM_014806.5(RUSC2):c.4212-6C>A

gnomAD frequency: 0.00004  dbSNP: rs770869478
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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 RCV002121481 SCV002450479 benign not provided 2023-04-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003895923 SCV004714825 likely benign RUSC2-related disorder 2022-02-17 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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