ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.591C>T (p.Ser197=)

gnomAD frequency: 0.00003  dbSNP: rs768524733
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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 RCV001401933 SCV001603771 likely benign MHC class II deficiency 2025-01-07 criteria provided, single submitter clinical testing

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