ClinVar Miner

Submissions for variant NM_001394372.1(BICRA):c.2351C>T (p.Pro784Leu)

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
CeGaT Center for Human Genetics Tuebingen RCV003407051 SCV004142071 benign not provided 2024-03-01 criteria provided, single submitter clinical testing BICRA: BS1, BS2
Ambry Genetics RCV004364565 SCV004914267 uncertain significance not specified 2024-01-24 criteria provided, single submitter clinical testing The c.2351C>T (p.P784L) alteration is located in exon 8 (coding exon 6) of the GLTSCR1 gene. This alteration results from a C to T substitution at nucleotide position 2351, causing the proline (P) at amino acid position 784 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV003407051 SCV005209736 likely benign not provided criteria provided, single submitter not provided

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.