ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.414T>C (p.Val138=)

dbSNP: rs745772598
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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 RCV001487656 SCV001692151 likely benign MHC class II deficiency 2023-02-20 criteria provided, single submitter clinical testing

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