ClinVar Miner

Submissions for variant NM_006118.3(HAX1):c.514G>A (p.Val172Ile) (rs141970914)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000247277 SCV000595092 likely benign not specified 2016-10-25 criteria provided, single submitter clinical testing
Invitae RCV000653743 SCV000775633 likely benign Severe congenital neutropenia 3, autosomal recessive 2017-08-17 criteria provided, single submitter clinical testing
PreventionGenetics RCV000247277 SCV000311382 likely benign not specified criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059079 SCV000090600 not provided not provided no assertion provided not provided

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