ClinVar Miner

Submissions for variant NM_032436.4(CHAMP1):c.1680_1683dup (p.Glu562delinsProTer)

dbSNP: rs1594131663
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000995105 SCV001149107 likely pathogenic not provided 2017-10-01 criteria provided, single submitter clinical testing
GenomeConnect - Simons Searchlight RCV001265368 SCV001443493 pathogenic CHAMP1-related syndrome 2018-09-05 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-09-05 and interpreted as Pathogenic. Variant was initially reported on 2017-10-26 by GTR ID of laboratory name 319947. The reporting laboratory might also submit to ClinVar.

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