ClinVar Miner

Submissions for variant NM_014845.5(FIG4):c.2559G>A (p.Ser853=) (rs1127771)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000245906 SCV000312229 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000321034 SCV000459649 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.
Illumina Clinical Services Laboratory,Illumina RCV001095029 SCV000459650 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.
Invitae RCV000375677 SCV001000025 benign Charcot-Marie-Tooth disease type 4 2020-11-26 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173530 SCV001336620 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GeneDx RCV001706349 SCV001858524 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001701902 SCV001933478 benign Polymicrogyria, bilateral temporooccipital 2021-08-10 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000321034 SCV001933479 benign Amyotrophic lateral sclerosis type 11 2021-08-10 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001095029 SCV001933480 benign Charcot-Marie-Tooth disease, type 4J 2021-08-10 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001702397 SCV001933481 benign Yunis-Varon syndrome 2021-08-10 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000245906 SCV001744022 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000245906 SCV001808245 benign not specified no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000245906 SCV001923394 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000245906 SCV001932088 benign not specified no assertion criteria provided clinical testing

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