ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.3233+8_3233+9del

dbSNP: rs774399663
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000959151 SCV001106040 benign MHC class II deficiency 2024-01-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV000959151 SCV001462362 benign MHC class II deficiency 2020-09-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003935907 SCV004754631 likely benign CIITA-related disorder 2019-06-27 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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