ClinVar Miner

Submissions for variant NM_001770.5(CD19):c.527C>T (p.Pro176Leu) (rs148200569)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000662337 SCV000927187 uncertain significance not provided 2017-03-06 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000662337 SCV000784697 not provided not provided no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Illumina Clinical Services Laboratory,Illumina RCV000366349 SCV000396424 uncertain significance Common Variable Immune Deficiency, Recessive 2016-06-14 criteria provided, single submitter clinical testing

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