ClinVar Miner

Submissions for variant NM_004560.4(ROR2):c.1366dup (p.Leu456fs)

dbSNP: rs1587657302
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004589500 SCV005079204 pathogenic not provided 2023-04-17 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation, as the last 488 amino acids are replaced with 2 different amino acids, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 19533773)
OMIM RCV000007740 SCV000027941 pathogenic Brachydactyly type B1 2009-07-01 no assertion criteria provided literature only

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