ClinVar Miner

Submissions for variant NM_000061.2(BTK):c.141+11C>T (rs138411530)

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Total submissions: 7
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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 RCV000224614 SCV000281500 benign not provided 2015-10-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000445094 SCV000704471 benign not specified 2016-12-28 criteria provided, single submitter clinical testing
GeneDx RCV000445094 SCV000512427 benign not specified 2015-08-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000380244 SCV000481396 likely benign Isolated Growth Hormone Deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000266994 SCV000481397 likely benign X-linked agammaglobulinemia 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000224614 SCV000695289 benign not provided 2017-03-03 criteria provided, single submitter clinical testing Variant summary: The BTK c.141+11C>T variant involves the alteration of a non-conserved intronic nucleotide. Mutation tested predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. These predictions have yet to be confirmed by functional studies. This variant was found in the large control population database ExAC (410/87888 control chromosomes including 160 hemizygotes) at a frequency of 0.004665, which is approximately 2 times the estimated maximal expected allele frequency of a pathogenic BTK variant (0.0023049), suggesting this variant is likely a benign polymorphism. Multiple clinical diagnostic laboratories/reputable databases have classified this variant as likely benign or benign. Published studies als support for benign outcome -- this variant was found not to cosegregate with XLA in a family (Conley_2008) and was found in a family with primary immunodeficiency disease that had alternate molecular mechanism (Stray-Pedersen_2017). Taken together, this variant is classified as benign.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000660378 SCV000782453 uncertain significance X-linked agammaglobulinemia; X-linked agammaglobulinemia with growth hormone deficiency 2016-06-23 criteria provided, single submitter clinical testing

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