ClinVar Miner

Submissions for variant NM_001128148.3(TFRC):c.1198+1G>T

dbSNP: rs1341988492
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714864 SCV000845608 pathogenic TFRC-related combined immunodeficiency 2018-08-07 criteria provided, single submitter clinical testing

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