ClinVar Miner

Submissions for variant NM_002872.5(RAC2):c.449-18G>T

gnomAD frequency: 0.00403  dbSNP: rs73889256
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439015 SCV000514343 likely benign not specified 2016-10-14 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001517048 SCV001725454 benign Neutrophil immunodeficiency syndrome 2024-01-25 criteria provided, single submitter clinical testing

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