Submissions for variant NM_004560.4(ROR2):c.1324C>T (p.Arg442Ter)

gnomAD frequency: 0.00001  dbSNP: rs267607016

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Suma Genomics	RCV000761457	SCV002543795	pathogenic	Autosomal recessive Robinow syndrome		criteria provided, single submitter	clinical testing
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS	RCV000761457	SCV002549047	pathogenic	Autosomal recessive Robinow syndrome		criteria provided, single submitter	research
GeneDx	RCV003441709	SCV004169152	pathogenic	not provided	2023-04-17	criteria provided, single submitter	clinical testing	Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 35587316, 19640924)
OMIM	RCV000007742	SCV000027943	pathogenic	Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly	2009-11-01	no assertion criteria provided	literature only
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University	RCV000761457	SCV000891552	pathogenic	Autosomal recessive Robinow syndrome	2017-12-30	no assertion criteria provided	curation
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	RCV000761457	SCV001441503	pathogenic	Autosomal recessive Robinow syndrome		no assertion criteria provided	research