ClinVar Miner

Submissions for variant NM_139343.3(BIN1):c.1625A>G (p.Lys542Arg)

gnomAD frequency: 0.00841  dbSNP: rs138047593
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
Genetic Services Laboratory, University of Chicago RCV000145339 SCV000192418 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000145339 SCV000315933 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000145339 SCV000525090 benign not specified 2018-02-01 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.
Invitae RCV000553563 SCV000634511 benign Myopathy, centronuclear, 2 2024-01-29 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000145339 SCV000861171 benign not specified 2018-05-10 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000553563 SCV001291475 uncertain significance Myopathy, centronuclear, 2 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Athena Diagnostics RCV000145339 SCV001476176 benign not specified 2020-08-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002262752 SCV002544067 benign not provided 2024-04-01 criteria provided, single submitter clinical testing BIN1: BS1, BS2

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.