ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.1149C>T (p.Ala383=)

gnomAD frequency: 0.00001  dbSNP: rs748867171
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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 RCV000929765 SCV001075401 likely benign MHC class II deficiency 2024-08-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV000929765 SCV001462171 uncertain significance MHC class II deficiency 2020-01-24 no assertion criteria provided clinical testing

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