ClinVar Miner

Submissions for variant NM_016628.5(WAC):c.263_266del (p.Glu88fs) (rs864321689)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493235 SCV000582584 pathogenic not provided 2019-09-25 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 at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 25356899, 30564305)
Ambry Genetics RCV001266462 SCV001444637 pathogenic Inborn genetic diseases 2019-12-30 criteria provided, single submitter clinical testing
OMIM RCV000203516 SCV000258621 pathogenic Desanto-shinawi syndrome 2014-10-01 no assertion criteria provided literature only

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