ClinVar Miner

Submissions for variant NM_002872.5(RAC2):c.477T>C (p.Ala159=)

gnomAD frequency: 0.22300  dbSNP: rs1064498
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127683 SCV000171262 benign not specified 2013-01-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000127683 SCV000540143 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 RCV001510329 SCV001717340 benign Neutrophil immunodeficiency syndrome 2024-02-01 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000127683 SCV004232858 benign not specified 2024-01-24 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 21% of patients studied by a panel of primary immunodeficiencies. Number of patients: 20. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV004713348 SCV005277244 benign not provided criteria provided, single submitter not provided

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