ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.2823dup (p.Gly942fs)

dbSNP: rs769882681
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001588817 SCV001814292 pathogenic not provided 2019-06-14 criteria provided, single submitter clinical testing Frameshift 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 in large population cohorts (Lek et al., 2016); Identified in 2 siblings with Knobloch syndrome in published literature (Menzel et al., 2004); This variant is associated with the following publications: (PMID: 14695535)
OMIM RCV000018654 SCV000038937 pathogenic Knobloch syndrome 2004-01-01 no assertion criteria provided literature only

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