ClinVar Miner

Submissions for variant NM_000538.4(RFXAP):c.699A>G (p.Gln233=)

gnomAD frequency: 0.00002  dbSNP: rs202180471
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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 RCV000647949 SCV000769757 likely benign MHC class II deficiency 2023-10-13 criteria provided, single submitter clinical testing

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