ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.4687A>G (p.Arg1563Gly)

gnomAD frequency: 0.00523  dbSNP: rs75430389
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001084906 SCV000218567 benign Hereditary spastic paraplegia 11 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001084906 SCV000391281 likely benign Hereditary spastic paraplegia 11 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 RCV000515116 SCV000610728 likely benign not provided 2017-05-03 criteria provided, single submitter clinical testing
GeneDx RCV000515116 SCV000720810 benign not provided 2020-04-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847788 SCV002105721 likely benign Hereditary spastic paraplegia 2020-04-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467639 SCV002763900 likely benign Amyotrophic lateral sclerosis type 5 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467640 SCV002763901 likely benign Charcot-Marie-Tooth disease axonal type 2X criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001084906 SCV002763902 likely benign Hereditary spastic paraplegia 11 criteria provided, single submitter clinical testing

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