ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.2408C>T (p.Ala803Val)

gnomAD frequency: 0.00016  dbSNP: rs577781366
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000884997 SCV001028414 likely benign MHC class II deficiency 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV000884997 SCV001452154 likely benign MHC class II deficiency 2020-04-24 no assertion criteria provided clinical testing

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