ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1305C>T (p.Tyr435=) (rs587779406)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000087095 SCV000220775 likely pathogenic Tay-Sachs disease 2014-10-08 criteria provided, single submitter literature only
Ambry Genetics RCV000624856 SCV000742704 likely pathogenic Inborn genetic diseases 2017-07-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela RCV000087095 SCV000119952 pathogenic Tay-Sachs disease no assertion criteria provided research

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.