ClinVar Miner

Submissions for variant NM_013314.3(BLNK):c.472G>T (p.Ala158Ser) (rs148612299)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000514641 SCV000883455 benign not provided 2017-10-20 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514641 SCV000610561 likely benign not provided 2017-03-17 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000239089 SCV000297237 likely benign not specified 2015-09-24 criteria provided, single submitter clinical testing
Invitae RCV000556759 SCV000650071 benign Agammaglobulinemia 4, autosomal recessive 2017-12-18 criteria provided, single submitter clinical testing

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