ClinVar Miner

Submissions for variant NM_000544.3(TAP2):c.1158G>T (p.Gly386=) (rs2228397)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768101 SCV000899005 benign Bare lymphocyte syndrome type 1 2018-05-24 criteria provided, single submitter clinical testing TAP2 NM_000544.3 exon 7 p.Gly386= (c.1158G>T): This variant is present at an overall frequency of 25.4% in the gnomAD database and does not cause a protein coding change. Therefore, the classification of this variant is benign.

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