ClinVar Miner

Submissions for variant NM_000215.3(JAK3):c.2062A>T (p.Ile688Phe) (rs35785705)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000335092 SCV000411108 uncertain significance Severe Combined Immune Deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000543978 SCV000638317 likely benign not provided 2018-11-09 criteria provided, single submitter clinical testing
ITMI RCV000121260 SCV000085431 not provided not specified 2013-09-19 no assertion provided reference population

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