ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.2615T>C (p.Met872Thr)

gnomAD frequency: 0.00002  dbSNP: rs761093701
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001200524 SCV001371508 uncertain significance not provided 2020-04-01 criteria provided, single submitter clinical testing
GeneDx RCV001200524 SCV001873462 likely benign not provided 2021-01-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807390 SCV002054315 likely benign Coffin-Siris syndrome 1 2021-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001200524 SCV002425823 benign not provided 2023-03-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002447043 SCV002733694 uncertain significance Inborn genetic diseases 2021-04-27 criteria provided, single submitter clinical testing The c.2405T>C (p.M802T) alteration is located in exon 8 (coding exon 8) of the ARID1B gene. This alteration results from a T to C substitution at nucleotide position 2405, causing the methionine (M) at amino acid position 802 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001807390 SCV003825003 uncertain significance Coffin-Siris syndrome 1 2021-04-24 criteria provided, single submitter clinical testing

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.