ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.2751C>T (p.Ile917=)

gnomAD frequency: 0.00001  dbSNP: rs771046803
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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 RCV001451228 SCV001654855 likely benign MHC class II deficiency 2024-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965885 SCV004789437 likely benign CIITA-related disorder 2019-04-25 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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