ClinVar Miner

Submissions for variant NM_004560.4(ROR2):c.323G>A (p.Arg108Gln)

dbSNP: rs1587690611
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences RCV000855449 SCV000902248 likely pathogenic Autosomal recessive Robinow syndrome criteria provided, single submitter clinical testing Sanger sequencing showed a novel homozygous missense sequence variant in ROR2 gene. It is predicted as pathogenic by MutationTaster. This variant is classified as likely pathogenic which shows strong evidence of pathogenicity according to ACMG guidelines (Richards et al., 2015). This variant is not found in ExAC and 1000G databases. Parents were heterozygous for the same variation.
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000855449 SCV001441493 likely pathogenic Autosomal recessive Robinow syndrome no assertion criteria provided research

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