ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.4193T>C (p.Ile1398Thr)

gnomAD frequency: 0.00032  dbSNP: rs145732065
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000960671 SCV001107680 benign Luscan-Lumish syndrome 2024-07-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003436937 SCV004154377 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing SETD2: BP4, BS2
Athena Diagnostics RCV000122051 SCV005621142 benign not specified 2024-02-01 criteria provided, single submitter clinical testing
ITMI RCV000122051 SCV000086262 not provided not specified 2013-09-19 no assertion provided reference population

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.