ClinVar Miner

Submissions for variant NM_002872.5(RAC2):c.78C>T (p.Asn26=)

gnomAD frequency: 0.00005  dbSNP: rs375093215
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001414726 SCV001616867 likely benign Neutrophil immunodeficiency syndrome 2020-08-14 criteria provided, single submitter clinical testing

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