ClinVar Miner

Submissions for variant NM_004560.4(ROR2):c.1583G>A (p.Arg528Gln)

gnomAD frequency: 0.00108  dbSNP: rs142215888
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597656 SCV000705635 uncertain significance not provided 2017-02-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001168499 SCV001331095 uncertain significance Autosomal recessive Robinow syndrome 2017-08-24 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001168500 SCV001331096 benign Brachydactyly type B1 2017-08-24 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Invitae RCV000597656 SCV001669773 likely benign not provided 2024-01-12 criteria provided, single submitter clinical testing
GeneDx RCV000597656 SCV001987738 uncertain significance not provided 2020-02-28 criteria provided, single submitter clinical testing Observed heterozygous with no other ROR2 variant in a patient with mild Robinow syndrome (Aglan et al., 2015); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 26284319)
Ambry Genetics RCV002532489 SCV003543360 likely benign Inborn genetic diseases 2022-02-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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