ClinVar Miner

Submissions for variant NM_000246.3(CIITA):c.1527C>T (p.Gly509=) (rs1427227633)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000939322 SCV001085164 likely benign not provided 2018-09-10 criteria provided, single submitter clinical testing
Invitae RCV001280296 SCV001605202 likely benign Bare lymphocyte syndrome 2 2020-08-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280296 SCV001467462 uncertain significance Bare lymphocyte syndrome 2 2020-07-29 no assertion criteria provided clinical testing

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