ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.1503C>T (p.Phe501=)

gnomAD frequency: 0.00002  dbSNP: rs768999342
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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 RCV001440510 SCV001643420 likely benign MHC class II deficiency 2024-12-17 criteria provided, single submitter clinical testing

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