ClinVar Miner

Submissions for variant NM_139241.3(FGD4):c.1560C>T (p.Ile520=) (rs61748364)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000174615 SCV000225938 benign not specified 2015-03-04 criteria provided, single submitter clinical testing
Invitae RCV000205200 SCV000260581 benign Charcot-Marie-Tooth disease type 4 2020-12-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001094178 SCV000378189 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Athena Diagnostics Inc RCV000174615 SCV000613273 benign not specified 2017-07-12 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174111 SCV001337232 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001094178 SCV001477724 benign Charcot-Marie-Tooth disease, type 4H 2020-04-27 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001311297 SCV001501409 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing
GeneDx RCV001311297 SCV001841806 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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