ClinVar Miner

Submissions for variant NM_015001.3(SPEN):c.6799G>T (p.Glu2267Ter)

dbSNP: rs754293393
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital RCV001530944 SCV001468536 pathogenic not provided 2020-12-03 criteria provided, single submitter research
GeneDx RCV001530944 SCV001770713 uncertain significance not provided 2019-10-23 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (Richards et al., 2015); This variant is associated with the following publications: (PMID: 33596411)

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