ClinVar Miner

Submissions for variant NM_001904.4(CTNNB1):c.211dup (p.Ser71fs)

dbSNP: rs1575315766
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008327 SCV001168095 pathogenic not provided 2020-09-23 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); Has not been previously published as pathogenic or benign to our knowledge
GenomeConnect - Simons Searchlight RCV001265237 SCV001443349 pathogenic Severe intellectual disability-progressive spastic diplegia syndrome 2018-11-05 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-11-05 and interpreted as Pathogenic. Variant was initially reported on 2018-09-08 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar.

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