ClinVar Miner

Submissions for variant NM_000377.2(WAS):c.391G>A (p.Glu131Lys) (rs146220228)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514559 SCV000609707 likely benign not provided 2017-06-26 criteria provided, single submitter clinical testing
Invitae RCV001081710 SCV000629752 benign X-linked severe congenital neutropenia; X-linked thrombocytopenia with normal platelets; Wiskott-Aldrich syndrome 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000990810 SCV001141853 likely benign X-linked severe congenital neutropenia 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000514559 SCV001246840 likely benign not provided 2019-12-01 criteria provided, single submitter clinical testing
ITMI RCV000122268 SCV000086493 not provided not specified 2013-09-19 no assertion provided reference population

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