ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.64A>G (p.Met22Val)

gnomAD frequency: 0.00354  dbSNP: rs34255962
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000555675 SCV000391318 likely benign Hereditary spastic paraplegia 11 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000555675 SCV000642270 benign Hereditary spastic paraplegia 11 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001582954 SCV001820394 likely benign not provided 2020-02-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32166880)
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848659 SCV002105756 likely benign Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467758 SCV002762939 likely benign Amyotrophic lateral sclerosis type 5 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467759 SCV002762940 likely benign Charcot-Marie-Tooth disease axonal type 2X criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000555675 SCV002762941 likely benign Hereditary spastic paraplegia 11 criteria provided, single submitter clinical testing

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