ClinVar Miner

Submissions for variant NM_014043.4(CHMP2B):c.34+8C>T

gnomAD frequency: 0.00300  dbSNP: rs35413339
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000288601 SCV000446335 benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 2018-01-13 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.
Athena Diagnostics Inc RCV000517928 SCV000612727 benign not specified 2021-03-19 criteria provided, single submitter clinical testing
Invitae RCV000288601 SCV000761228 benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 2024-01-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001579735 SCV002821201 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing CHMP2B: BP4, BS2
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579735 SCV001808328 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001579735 SCV001929859 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579735 SCV001966017 likely benign not provided no assertion criteria provided clinical testing

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