ClinVar Miner

Submissions for variant NM_002227.4(JAK1):c.3463T>C (p.Ter1155Gln)

gnomAD frequency: 0.00001  dbSNP: rs200563303
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002055341 SCV002494196 likely benign not provided 2023-12-02 criteria provided, single submitter clinical testing
ITMI RCV000121236 SCV000085407 not provided not specified 2013-09-19 no assertion provided reference population

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