ClinVar Miner

Submissions for variant NM_002472.3(MYH8):c.225G>C (p.Arg75Ser)

gnomAD frequency: 0.00220  dbSNP: rs146732664
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003891909 SCV000308997 benign MYH8-related condition 2021-07-28 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
GeneDx RCV000910866 SCV000513816 benign not provided 2020-11-18 criteria provided, single submitter clinical testing
Invitae RCV000910866 SCV001055917 benign not provided 2018-08-16 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001120569 SCV001279063 benign Hecht syndrome 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

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.