ClinVar Miner

Submissions for variant NM_004560.4(ROR2):c.1353_1360del (p.Met452fs)

dbSNP: rs1365019676
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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 Molecular Biology and Genetics, Istanbul Technical University RCV001548753 SCV001768716 pathogenic Autosomal recessive Robinow syndrome 2021-08-04 no assertion criteria provided research
Indian Institute of Integrative Medicine, Council of Scientific and Industrial Research RCV001548753 SCV001879311 pathogenic Autosomal recessive Robinow syndrome 2021-04-10 no assertion criteria provided research Candidate homozygous variant segregating well with the disease phenotype. The cases (03) represent the Robino syndrome clinically with brachysyndactyly. Genetic examination of one parent with heterozygous variant shows normal phenotype.

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