ClinVar Miner

Submissions for variant NM_000449.3(RFX5):c.1495C>T (p.Pro499Ser) (rs2233855)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000308032 SCV000348306 uncertain significance Bare lymphocyte syndrome 2 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000308032 SCV000649548 benign Bare lymphocyte syndrome 2 2017-10-16 criteria provided, single submitter clinical testing

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