ClinVar Miner

Submissions for variant NM_000061.2(BTK):c.615G>T (p.Glu205Asp) (rs35877704)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000515112 SCV000883530 likely benign not provided 2017-06-26 criteria provided, single submitter clinical testing The p.Glu205Asp variant (rs35877704) has not been reported in association with primary antibody deficiency in medical literature but has been reported in the general population at a frequency inconsistent with X-linked agammaglobulinemia (Abbott 2013). It is listed in the genome Aggregation Database (gnomAD) with an overall population frequency of 0.1 percent (identified on 213 out of 200,046 chromosomes including 64 hemizygotes) and has been reported to ClinVar (Variation ID: 286327) as likely benign by multiple laboratories. Based on these observations, the p.Glu205Asp variant is likely to be benign.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000515112 SCV000610166 likely benign not provided 2017-08-16 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000308563 SCV000339710 likely benign not specified 2016-03-01 criteria provided, single submitter clinical testing
GeneDx RCV000308563 SCV000518395 likely benign not specified 2015-08-24 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 RCV000301267 SCV000481392 likely benign Isolated Growth Hormone Deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000356123 SCV000481393 likely benign X-linked agammaglobulinemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000637059 SCV000758507 benign X-linked agammaglobulinemia with growth hormone deficiency 2017-11-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000308563 SCV000538511 likely benign not specified 2016-06-02 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: 0.1% in ExAC , 30 hemizygotes

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.