ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.2046C>A (p.Ser682=)

dbSNP: rs143474425
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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 RCV001493819 SCV001698455 likely benign MHC class II deficiency 2020-08-29 criteria provided, single submitter clinical testing

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