ClinVar Miner

Submissions for variant NM_001167.4(XIAP):c.1268A>C (p.Gln423Pro) (rs5956583)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000249776 SCV000306926 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000614222 SCV000481627 benign Lymphoproliferative syndrome 2, X-linked 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000249776 SCV000540682 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000249776 SCV000705118 benign not specified 2018-04-05 criteria provided, single submitter clinical testing
Mendelics RCV000614222 SCV001142011 benign Lymphoproliferative syndrome 2, X-linked 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000614222 SCV001156968 benign Lymphoproliferative syndrome 2, X-linked 2018-07-09 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000614222 SCV000734739 benign Lymphoproliferative syndrome 2, X-linked no assertion criteria provided clinical testing

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