ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.3877C>T (p.Arg1293Ter)

dbSNP: rs746754428
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591888 SCV000707350 pathogenic not provided 2017-05-23 criteria provided, single submitter clinical testing
GeneDx RCV000591888 SCV002504556 pathogenic not provided 2020-01-24 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; This variant is associated with the following publications: (PMID: 31152317)

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