ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) (rs104894825)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000344288 SCV000342948 benign not specified 2016-07-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000011195 SCV000482715 likely benign X-linked hereditary motor and sensory neuropathy 2017-04-28 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000344288 SCV000520914 likely benign not specified 2016-09-23 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 RCV000467010 SCV000556953 benign Charcot-Marie-Tooth Neuropathy X 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000011195 SCV001141917 likely benign X-linked hereditary motor and sensory neuropathy 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000011195 SCV000031422 pathogenic X-linked hereditary motor and sensory neuropathy 2005-05-01 no assertion criteria provided literature only
GeneReviews RCV000011195 SCV000040510 pathologic X-linked hereditary motor and sensory neuropathy 2010-04-15 no assertion criteria provided curation Converted during submission to Pathogenic.

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.