ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.3264G>A (p.Gln1088=)

gnomAD frequency: 0.00024  dbSNP: rs142769100
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000966386 SCV001113702 likely benign not provided 2024-01-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000966386 SCV004125821 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing POLR3A: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003936015 SCV004760188 likely benign POLR3A-related condition 2019-11-04 criteria provided, single submitter 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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