ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.200-9T>C

gnomAD frequency: 0.00001  dbSNP: rs778238111
Minimum review status: Collection method:
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001279101 SCV001703326 likely benign MHC class II deficiency 2023-07-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279101 SCV001466165 uncertain significance MHC class II deficiency 2020-04-24 no assertion criteria provided clinical testing

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