ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.773-18T>G

gnomAD frequency: 0.00142  dbSNP: rs75483410
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001517637 SCV001726174 benign MHC class II deficiency 2024-01-31 criteria provided, single submitter clinical testing

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