ClinVar Miner

Submissions for variant NM_001025603.2(RFX5):c.758-20C>T

gnomAD frequency: 0.00003  dbSNP: rs1036063384
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002075875 SCV002386194 likely benign MHC class II deficiency 2022-09-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711787 SCV005262096 likely benign not provided criteria provided, single submitter not provided

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