ClinVar Miner

Submissions for variant NM_020631.5(PLEKHG5):c.713C>G (p.Thr238Ser) (rs61741379)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000180356 SCV000232769 benign not specified 2014-10-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000180356 SCV000313636 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000346358 SCV000358764 benign Distal spinal muscular atrophy, autosomal recessive 4 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 RCV001514560 SCV001722432 benign Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c 2020-12-03 criteria provided, single submitter clinical testing

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