ClinVar Miner

Submissions for variant NM_001025603.2(RFX5):c.858+13G>A

gnomAD frequency: 0.00002  dbSNP: rs778371620
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000319991 SCV000348312 uncertain significance MHC class II deficiency 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000319991 SCV003339881 likely benign MHC class II deficiency 2022-04-06 criteria provided, single submitter clinical testing

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