ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.2888+34C>T

gnomAD frequency: 0.49064  dbSNP: rs4781019
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001543026 SCV001761498 benign MHC class II deficiency 2021-07-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716754 SCV005289599 benign not provided criteria provided, single submitter not provided

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