ClinVar Miner

Submissions for variant NM_004560.4(ROR2):c.1856G>A (p.Arg619His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHU Sainte-Justine Research Center, University of Montreal RCV002790049 SCV003761490 likely pathogenic Autosomal recessive Robinow syndrome 2022-01-04 criteria provided, single submitter clinical testing Compound heterozygous with NM_004560.3:c.640G>C
Ambry Genetics RCV003269526 SCV003979613 uncertain significance Inborn genetic diseases 2023-05-23 criteria provided, single submitter clinical testing The c.1856G>A (p.R619H) alteration is located in exon 9 (coding exon 9) of the ROR2 gene. This alteration results from a G to A substitution at nucleotide position 1856, causing the arginine (R) at amino acid position 619 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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