ClinVar Miner

Submissions for variant NM_001395656.1(ROBO2):c.1556A>T (p.Asn519Ile)

gnomAD frequency: 0.00662  dbSNP: rs80051448
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000987293 SCV000446175 likely benign Vesicoureteral reflux 2 2017-04-28 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000949701 SCV001095965 benign not provided 2024-12-16 criteria provided, single submitter clinical testing
Mendelics RCV000987293 SCV001136551 benign Vesicoureteral reflux 2 2019-05-28 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001290222 SCV001468579 likely benign Congenital anomaly of kidney and urinary tract 2021-01-09 criteria provided, single submitter curation This ROBO2 variant was reported as Likely pathogenic​ in PMID: 18235093 with original nomenclature reported as 1544A->T, Asn515Ile. Variant was re-classified as Likely Benign based on the criteria BS1_Moderate, BS2_Moderate, BP4_Supporting.
Breakthrough Genomics, Breakthrough Genomics RCV000949701 SCV005264117 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.