ClinVar Miner

Submissions for variant NM_001025603.2(RFX5):c.234-1G>A

gnomAD frequency: 0.00022  dbSNP: rs748270285
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788189 SCV000927221 pathogenic not provided 2017-04-06 criteria provided, single submitter clinical testing
OMIM RCV004562201 SCV000028290 pathogenic MHC class II deficiency 3 1997-01-01 no assertion criteria provided literature only

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