ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4591C>T (p.Gln1531Ter)

dbSNP: rs1553463032
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578648 SCV000681343 pathogenic not provided 2019-08-22 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; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
GenomeConnect, ClinGen RCV001249406 SCV001423404 not provided SCN2A-related disorder no assertion provided phenotyping only Variant interpretted as Pathogenic and reported on 01-23-2018 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
GenomeConnect - Simons Searchlight RCV001265407 SCV001443533 pathogenic Complex neurodevelopmental disorder 2018-03-16 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-03-16 and interpreted as Pathogenic. Variant was initially reported on 2018-01-23 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar.

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