ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.1568G>C (p.Cys523Ser)

gnomAD frequency: 0.00001  dbSNP: rs200881105
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002541743 SCV003748109 uncertain significance Inborn genetic diseases 2021-08-30 criteria provided, single submitter clinical testing The c.1568G>C (p.C523S) alteration is located in exon 11 (coding exon 11) of the CIITA gene. This alteration results from a G to C substitution at nucleotide position 1568, causing the cysteine (C) at amino acid position 523 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001280299 SCV001467465 likely benign MHC class II deficiency 2020-11-04 no assertion criteria provided clinical testing

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