ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.2643T>C (p.Cys881=)

gnomAD frequency: 0.00001  dbSNP: rs776775225
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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 RCV001410505 SCV001612554 likely benign MHC class II deficiency 2022-05-27 criteria provided, single submitter clinical testing

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