ClinVar Miner

Submissions for variant NM_003721.4(RFXANK):c.213C>T (p.Thr71=)

gnomAD frequency: 0.04571  dbSNP: rs72997200
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000394702 SCV000411295 uncertain significance MHC class II deficiency 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000454492 SCV000540185 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Labcorp Genetics (formerly Invitae), Labcorp RCV000394702 SCV001722712 benign MHC class II deficiency 2024-01-31 criteria provided, single submitter clinical testing

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