ClinVar Miner

Submissions for variant NM_014845.5(FIG4):c.1948+3A>G (rs10499054)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000244780 SCV000312226 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000244780 SCV000335665 benign not specified 2015-09-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001095020 SCV000459631 benign Charcot-Marie-Tooth disease, type 4J 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.
Illumina Clinical Services Laboratory,Illumina RCV000321790 SCV000459632 benign Amyotrophic lateral sclerosis type 11 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.
Athena Diagnostics Inc RCV000576512 SCV000677296 benign Amyotrophic lateral sclerosis type 11; Charcot-Marie-Tooth disease, type 4J 2017-04-28 criteria provided, single submitter clinical testing
Invitae RCV000287031 SCV001000024 benign Charcot-Marie-Tooth disease type 4 2020-12-03 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173529 SCV001336619 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GeneDx RCV001706348 SCV001899384 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001701901 SCV001933465 benign Polymicrogyria, bilateral temporooccipital 2021-08-10 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000321790 SCV001933466 benign Amyotrophic lateral sclerosis type 11 2021-08-10 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001095020 SCV001933467 benign Charcot-Marie-Tooth disease, type 4J 2021-08-10 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001701969 SCV001933468 benign Yunis-Varon syndrome 2021-08-10 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000244780 SCV001744029 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000244780 SCV001808622 benign not specified no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000244780 SCV001920052 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000244780 SCV001927978 benign not specified no assertion criteria provided clinical testing

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