ClinVar Miner

Submissions for variant NM_014043.4(CHMP2B):c.27C>T (p.Thr9=)

gnomAD frequency: 0.09131  dbSNP: rs2279720
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248385 SCV000312018 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000381786 SCV000446334 benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000381786 SCV001721162 benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000084270 SCV001944933 benign not provided 2018-08-17 criteria provided, single submitter clinical testing
VIB Department of Molecular Genetics, University of Antwerp RCV000084270 SCV000116406 not provided not provided no assertion provided not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000248385 SCV001809375 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000248385 SCV001968788 benign not specified no assertion criteria provided clinical testing

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