ClinVar Miner

Submissions for variant NM_001128929.3(ROBO2):c.1592A>T (p.Asn531Ile) (rs80051448)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,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.
Invitae RCV000949701 SCV001095965 benign not provided 2018-11-26 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 anomalies 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.

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