ClinVar Miner

Submissions for variant NM_139241.3(FGD4):c.993+8G>A (rs12823621)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV001094093 SCV000378178 benign Charcot-Marie-Tooth disease, type 4H 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 RCV000516621 SCV000613278 benign not specified 2017-08-02 criteria provided, single submitter clinical testing
Invitae RCV000374914 SCV001000530 benign Charcot-Marie-Tooth disease type 4 2020-11-26 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174112 SCV001337233 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GeneDx RCV001706467 SCV001831016 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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