ClinVar Miner

Submissions for variant NM_018082.6(POLR3B):c.2796C>T (p.His932=)

gnomAD frequency: 0.00088  dbSNP: rs141030994
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252562 SCV002523859 uncertain significance See cases 2020-11-16 criteria provided, single submitter clinical testing ACMG classification criteria: BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003101390 SCV003296362 benign not provided 2024-02-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004548247 SCV004745330 likely benign POLR3B-related disorder 2019-04-26 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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