ClinVar Miner

Submissions for variant NM_001025603.2(RFX5):c.753C>T (p.Leu251=)

gnomAD frequency: 0.97700  dbSNP: rs1752386
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455174 SCV000540183 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: MAF
Labcorp Genetics (formerly Invitae), Labcorp RCV001514922 SCV001722886 benign MHC class II deficiency 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001514922 SCV002033587 benign MHC class II deficiency 2021-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715223 SCV005284050 benign not provided criteria provided, single submitter not provided

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