ClinVar Miner

Submissions for variant NM_024589.2(ROGDI):c.713G>A (p.Arg238His) (rs138409264)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000389190 SCV000397134 likely benign Amelocerebrohypohidrotic syndrome 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000427626 SCV000510816 likely benign not provided 2016-10-12 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000389190 SCV000561646 benign Amelocerebrohypohidrotic syndrome 2020-12-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000427626 SCV000843501 benign not provided 2017-09-27 criteria provided, single submitter clinical testing
Mendelics RCV000389190 SCV001139927 likely benign Amelocerebrohypohidrotic syndrome 2019-05-28 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000389190 SCV000733502 likely benign Amelocerebrohypohidrotic syndrome no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702424 SCV001932231 benign not specified no assertion criteria provided clinical testing

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