ClinVar Miner

Submissions for variant NM_001025603.2(RFX5):c.765C>T (p.Asp255=)

gnomAD frequency: 0.00001  dbSNP: rs774595444
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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 RCV001504600 SCV001709485 likely benign MHC class II deficiency 2019-02-10 criteria provided, single submitter clinical testing

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