ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.2841A>G (p.Pro947=) (rs730106)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000081290 SCV000113198 benign not specified 2013-04-03 criteria provided, single submitter clinical testing
GeneDx RCV000081290 SCV000517679 benign not specified 2015-12-02 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 RCV001513392 SCV001721006 benign Mental retardation 3, X-linked 2020-11-27 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001513392 SCV001934094 benign Mental retardation 3, X-linked 2021-08-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000081290 SCV000151378 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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.